SNP Links for Protein (Select 62739188) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:196701325 (GRCh38)
1:196670455 (GRCh37)
Canonical SPDI:: NC_000001.11:196701324:C:T
Gene:: CFH (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.196701325C>T, NC_000001.10:g.196670455C>T, NG_007259.1:g.54315C>T, NM_001014975.3:c.1344C>T, NM_001014975.2:c.1344C>T, NW_025791754.1:g.551031C>T

Select item 144756998016.

rs1447569980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:196652139 (GRCh38)
1:196621269 (GRCh37)
Canonical SPDI:: NC_000001.11:196652138:A:C
Gene:: CFH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196652139A>C, NC_000001.10:g.196621269A>C, NG_007259.1:g.5129A>C, NM_000186.4:c.22A>C, NM_000186.3:c.22A>C, NM_001014975.3:c.22A>C, NM_001014975.2:c.22A>C, NW_025791754.1:g.501802A>C, XM_017001108.3:c.22A>C, XM_017001108.2:c.22A>C, XM_017001108.1:c.22A>C, XR_007059267.1:n.97A>C, NP_000177.2:p.Ile8Leu, NP_001014975.1:p.Ile8Leu, XP_016856597.1:p.Ile8Leu

Select item 144367070917.

rs1443670709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:196690090 (GRCh38)
1:196659220 (GRCh37)
Canonical SPDI:: NC_000001.11:196690089:A:C
Gene:: CFH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.196690090A>C, NC_000001.10:g.196659220A>C, NG_007259.1:g.43080A>C, NM_000186.4:c.1187A>C, NM_000186.3:c.1187A>C, NM_001014975.3:c.1187A>C, NM_001014975.2:c.1187A>C, NW_025791754.1:g.539764A>C, XM_017001108.3:c.1187A>C, XM_017001108.2:c.1187A>C, XM_017001108.1:c.1187A>C, XM_047418835.1:c.704A>C, XR_007059267.1:n.1262A>C, NP_000177.2:p.Asn396Thr, NP_001014975.1:p.Asn396Thr, XP_016856597.1:p.Asn396Thr, XP_047274791.1:p.Asn235Thr

Select item 144126920118.

rs1441269201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:196685096 (GRCh38)
1:196654226 (GRCh37)
Canonical SPDI:: NC_000001.11:196685095:G:A
Gene:: CFH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196685096G>A, NC_000001.10:g.196654226G>A, NG_007259.1:g.38086G>A, NM_000186.4:c.823G>A, NM_000186.3:c.823G>A, NM_001014975.3:c.823G>A, NM_001014975.2:c.823G>A, NW_025791754.1:g.534774G>A, XM_017001108.3:c.823G>A, XM_017001108.2:c.823G>A, XM_017001108.1:c.823G>A, XM_047418835.1:c.340G>A, XR_007059267.1:n.898G>A, NP_000177.2:p.Gly275Ser, NP_001014975.1:p.Gly275Ser, XP_016856597.1:p.Gly275Ser, XP_047274791.1:p.Gly114Ser

Select item 144054660119.

rs1440546601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:196690204 (GRCh38)
1:196659334 (GRCh37)
Canonical SPDI:: NC_000001.11:196690203:A:C
Gene:: CFH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196690204A>C, NC_000001.10:g.196659334A>C, NG_007259.1:g.43194A>C, NM_000186.4:c.1301A>C, NM_000186.3:c.1301A>C, NM_001014975.3:c.1301A>C, NM_001014975.2:c.1301A>C, NW_025791754.1:g.539878A>C, XM_017001108.3:c.1301A>C, XM_017001108.2:c.1301A>C, XM_017001108.1:c.1301A>C, XM_047418835.1:c.818A>C, XR_007059267.1:n.1376A>C, NP_000177.2:p.Asn434Thr, NP_001014975.1:p.Asn434Thr, XP_016856597.1:p.Asn434Thr, XP_047274791.1:p.Asn273Thr

Select item 143968386520.

rs1439683865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:196673142 (GRCh38)
1:196642272 (GRCh37)
Canonical SPDI:: NC_000001.11:196673141:A:C
Gene:: CFH (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196673142A>C, NC_000001.10:g.196642272A>C, NG_007259.1:g.26132A>C, NM_000186.4:c.223A>C, NM_000186.3:c.223A>C, NM_001014975.3:c.223A>C, NM_001014975.2:c.223A>C, NW_025791754.1:g.522816A>C, XM_017001108.3:c.223A>C, XM_017001108.2:c.223A>C, XM_017001108.1:c.223A>C, XR_007059267.1:n.298A>C, NP_000177.2:p.Asn75His, NP_001014975.1:p.Asn75His, XP_016856597.1:p.Asn75His

dbSNP