SNP Links for Protein (Select 285002204) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84219171 (GRCh38)
10:85978927 (GRCh37)
Canonical SPDI:: NC_000010.11:84219170:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.84219171C>T, NC_000010.10:g.85978927C>T, NG_028034.1:g.29516C>T, NM_001171971.3:c.2133C>T, NM_001171971.2:c.2133C>T, XM_011540338.2:c.2307C>T, XM_011540338.1:c.2307C>T

Select item 147833579015.

rs1478335790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84213204 (GRCh38)
10:85972960 (GRCh37)
Canonical SPDI:: NC_000010.11:84213203:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.84213204G>A, NC_000010.10:g.85972960G>A, NG_028034.1:g.23549G>A, NM_033100.4:c.1896G>A, NM_033100.3:c.1896G>A, NM_001171971.3:c.1896G>A, NM_001171971.2:c.1896G>A, XM_011540337.2:c.2070G>A, XM_011540337.1:c.2070G>A, XM_011540339.2:c.1449G>A, XM_011540339.1:c.1449G>A, XM_011540338.2:c.2070G>A, XM_011540338.1:c.2070G>A, XM_047425997.1:c.1173G>A

Select item 147813436716.

rs1478134367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:84213172 (GRCh38)
10:85972928 (GRCh37)
Canonical SPDI:: NC_000010.11:84213171:A:G,NC_000010.11:84213171:A:T
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.84213172A>G, NC_000010.11:g.84213172A>T, NC_000010.10:g.85972928A>G, NC_000010.10:g.85972928A>T, NG_028034.1:g.23517A>G, NG_028034.1:g.23517A>T, NM_033100.4:c.1864A>G, NM_033100.4:c.1864A>T, NM_033100.3:c.1864A>G, NM_033100.3:c.1864A>T, NM_001171971.3:c.1864A>G, NM_001171971.3:c.1864A>T, NM_001171971.2:c.1864A>G, NM_001171971.2:c.1864A>T, XM_011540337.2:c.2038A>G, XM_011540337.2:c.2038A>T, XM_011540337.1:c.2038A>G, XM_011540337.1:c.2038A>T, XM_011540339.2:c.1417A>G, XM_011540339.2:c.1417A>T, XM_011540339.1:c.1417A>G, XM_011540339.1:c.1417A>T, XM_011540338.2:c.2038A>G, XM_011540338.2:c.2038A>T, XM_011540338.1:c.2038A>G, XM_011540338.1:c.2038A>T, XM_047425997.1:c.1141A>G, XM_047425997.1:c.1141A>T, NP_149091.1:p.Ile622Val, NP_149091.1:p.Ile622Phe, NP_001165442.1:p.Ile622Val, NP_001165442.1:p.Ile622Phe, XP_011538639.1:p.Ile680Val, XP_011538639.1:p.Ile680Phe, XP_011538641.1:p.Ile473Val, XP_011538641.1:p.Ile473Phe, XP_011538640.1:p.Ile680Val, XP_011538640.1:p.Ile680Phe, XP_047281953.1:p.Ile381Val, XP_047281953.1:p.Ile381Phe

Select item 147773349317.

rs1477733493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:84211689 (GRCh38)
10:85971445 (GRCh37)
Canonical SPDI:: NC_000010.11:84211688:T:G
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic,likely-pathogenic
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84211689T>G, NC_000010.10:g.85971445T>G, NG_028034.1:g.22034T>G, NM_033100.4:c.1527T>G, NM_033100.3:c.1527T>G, NM_001171971.3:c.1527T>G, NM_001171971.2:c.1527T>G, XM_011540340.4:c.1701T>G, XM_011540340.3:c.1701T>G, XM_011540340.2:c.1701T>G, XM_011540340.1:c.1701T>G, XM_011540337.2:c.1701T>G, XM_011540337.1:c.1701T>G, XM_011540339.2:c.1080T>G, XM_011540339.1:c.1080T>G, XM_011540338.2:c.1701T>G, XM_011540338.1:c.1701T>G, XM_047425997.1:c.804T>G, NP_149091.1:p.Tyr509Ter, NP_001165442.1:p.Tyr509Ter, XP_011538642.1:p.Tyr567Ter, XP_011538639.1:p.Tyr567Ter, XP_011538641.1:p.Tyr360Ter, XP_011538640.1:p.Tyr567Ter, XP_047281953.1:p.Tyr268Ter

Select item 147747254218.

rs1477472542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84212273 (GRCh38)
10:85972029 (GRCh37)
Canonical SPDI:: NC_000010.11:84212272:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.84212273G>A, NC_000010.10:g.85972029G>A, NG_028034.1:g.22618G>A, NM_033100.4:c.1648G>A, NM_033100.3:c.1648G>A, NM_001171971.3:c.1648G>A, NM_001171971.2:c.1648G>A, XM_011540340.4:c.1822G>A, XM_011540340.3:c.1822G>A, XM_011540340.2:c.1822G>A, XM_011540340.1:c.1822G>A, XM_011540337.2:c.1822G>A, XM_011540337.1:c.1822G>A, XM_011540339.2:c.1201G>A, XM_011540339.1:c.1201G>A, XM_011540338.2:c.1822G>A, XM_011540338.1:c.1822G>A, XM_047425997.1:c.925G>A, NP_149091.1:p.Ala550Thr, NP_001165442.1:p.Ala550Thr, XP_011538642.1:p.Ala608Thr, XP_011538639.1:p.Ala608Thr, XP_011538641.1:p.Ala401Thr, XP_011538640.1:p.Ala608Thr, XP_047281953.1:p.Ala309Thr

Select item 147642374119.

rs1476423741 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:84196609 (GRCh38)
10:85956365 (GRCh37)
Canonical SPDI:: NC_000010.11:84196607:CAC:C
Gene:: CDHR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84196609_84196610del, NC_000010.10:g.85956365_85956366del, NG_028034.1:g.6954_6955del, NM_033100.4:c.256_257del, NM_033100.3:c.256_257del, NM_001171971.3:c.256_257del, NM_001171971.2:c.256_257del, XM_011540340.4:c.430_431del, XM_011540340.3:c.430_431del, XM_011540340.2:c.430_431del, XM_011540340.1:c.430_431del, XM_011540337.2:c.430_431del, XM_011540337.1:c.430_431del, XM_011540338.2:c.430_431del, XM_011540338.1:c.430_431del, XM_047425997.1:c.-468_-467del, NP_149091.1:p.Thr86fs, NP_001165442.1:p.Thr86fs, XP_011538642.1:p.Thr144fs, XP_011538639.1:p.Thr144fs, XP_011538640.1:p.Thr144fs

Select item 147521629820.

rs1475216298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84194787 (GRCh38)
10:85954543 (GRCh37)
Canonical SPDI:: NC_000010.11:84194786:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000010.11:g.84194787G>A, NC_000010.10:g.85954543G>A, NG_028034.1:g.5132G>A, NM_033100.4:c.27G>A, NM_033100.3:c.27G>A, NM_001171971.3:c.27G>A, NM_001171971.2:c.27G>A, XM_011540340.4:c.-478G>A, XM_011540337.2:c.-478G>A, XM_011540338.2:c.-478G>A

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