Links from Gene
Items: 1 to 20 of 7281
1.
rs1491577248 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CCTGAATACAGCATGGGCAGGTGGGAAT,CCTGAATACAGCATGGGCAGGTGGGAATTTGTAGCTATGGAGCAG
[Show Flanks]
- Chromosome:
- 10:43396339
(GRCh38)
10:43891788
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43396339::CCTGAATACAGCATGGGCAGGTGGGAAT,NC_000010.11:43396339::CCTGAATACAGCATGGGCAGGTGGGAATTTGTAGCTATGGAGCAG
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTGAATACAGCATGGGCAGGTGGGAATTTGTAGCTATGGAGCAG=0.0002/1
(
ALFA)
- HGVS:
2.
rs1491466418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 10:43397912
(GRCh38)
10:43893361
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43397912:T:TT
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491391415 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 10:43396342
(GRCh38)
10:43891790
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43396338:CTCTC:CTC
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491275562 has merged into rs56118525 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 10:43391305
(GRCh38)
10:43886753
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000010.11:g.43391305_43391308del, NC_000010.11:g.43391306_43391308del, NC_000010.11:g.43391307_43391308del, NC_000010.11:g.43391308del, NC_000010.11:g.43391308dup, NC_000010.11:g.43391307_43391308dup, NC_000010.10:g.43886753_43886756del, NC_000010.10:g.43886754_43886756del, NC_000010.10:g.43886755_43886756del, NC_000010.10:g.43886756del, NC_000010.10:g.43886756dup, NC_000010.10:g.43886755_43886756dup
5.
rs1491207082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAGTGCAAGACTCTGTCTCA
[Show Flanks]
- Chromosome:
- 10:43391293
(GRCh38)
10:43886742
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43391293:A:ACAGTGCAAGACTCTGTCTCA
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAGTGCAAGACTCTGTCTCA=0./0
(
ALFA)
- HGVS:
6.
rs1491168199 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 10:43397977
(GRCh38)
10:43893425
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43397974:AGAG:AG
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0.000498/7
(
ALFA)
-=0.000285/40
(GnomAD)
-=0.000306/81
(TOPMED)
-=0.000312/2
(1000Genomes)
-=0.000519/2
(ALSPAC)
-=0.000809/3
(TWINSUK)
- HGVS:
7.
rs1491139233 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 10:43397915
(GRCh38)
10:43893363
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43397911:ATATA:ATA
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491059291 has merged into rs59258374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 10:43402902
(GRCh38)
10:43898350
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.12202/451
(1000Genomes)
- HGVS:
9.
rs1490940479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43411174
(GRCh38)
10:43906622
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43411173:C:T
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490862203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:43398086
(GRCh38)
10:43893534
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43398085:G:T
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490837641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 10:43405073
(GRCh38)
10:43900521
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43405071:CTC:C
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490768951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43393874
(GRCh38)
10:43889322
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43393873:C:T
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490439771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43397661
(GRCh38)
10:43893109
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43397660:T:C
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
14.
rs1490420822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 10:43410833
(GRCh38)
10:43906281
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43410832:T:A,NC_000010.11:43410832:T:G
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490387066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:43388808
(GRCh38)
10:43884256
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43388807:A:G
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490280357 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 10:43398344
(GRCh38)
10:43893792
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43398343:G:
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00857/912
(GnomAD)
-=0.010462/67
(1000Genomes)
- HGVS:
17.
rs1490091485 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 10:43410002
(GRCh38)
10:43905450
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43410001:G:
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0006/10
(TOMMO)
- HGVS:
18.
rs1489940219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:43392741
(GRCh38)
10:43888189
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43392740:A:T
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1489535104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 10:43387193
(GRCh38)
10:43882641
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43387192:A:C,NC_000010.11:43387192:A:T
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000010.11:g.43387193A>C, NC_000010.11:g.43387193A>T, NC_000010.10:g.43882641A>C, NC_000010.10:g.43882641A>T, NM_004966.4:c.692T>G, NM_004966.4:c.692T>A, NM_004966.3:c.692T>G, NM_004966.3:c.692T>A, NM_001098208.2:c.692T>G, NM_001098208.2:c.692T>A, NM_001098208.1:c.692T>G, NM_001098208.1:c.692T>A, NM_001098205.2:c.692T>G, NM_001098205.2:c.692T>A, NM_001098205.1:c.692T>G, NM_001098205.1:c.692T>A, NM_001098207.2:c.692T>G, NM_001098207.2:c.692T>A, NM_001098207.1:c.692T>G, NM_001098207.1:c.692T>A, NM_001098206.2:c.692T>G, NM_001098206.2:c.692T>A, NM_001098206.1:c.692T>G, NM_001098206.1:c.692T>A, NM_001098204.2:c.692T>G, NM_001098204.2:c.692T>A, NM_001098204.1:c.692T>G, NM_001098204.1:c.692T>A, NP_004957.1:p.Met231Arg, NP_004957.1:p.Met231Lys, NP_001091678.1:p.Met231Arg, NP_001091678.1:p.Met231Lys, NP_001091675.1:p.Met231Arg, NP_001091675.1:p.Met231Lys, NP_001091677.1:p.Met231Arg, NP_001091677.1:p.Met231Lys, NP_001091676.1:p.Met231Arg, NP_001091676.1:p.Met231Lys, NP_001091674.1:p.Met231Arg, NP_001091674.1:p.Met231Lys
20.
rs1489335855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43406969
(GRCh38)
10:43902417
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43406968:T:C
- Gene:
- HNRNPF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS: