Allele Registry

Canonical Allele Identifier: CA10821104

Gene: CFH HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.196651787C>T

GRCh37 chr1:g.196620917C>T

Linked Data - Sequence & Population

gnomAD v2:

1:196620917 C / T

gnomAD v3:

1:196651787 C / T

gnomAD v4:

chr1-196651787-C-T

Joint Max Group AF 0.51043279 (EAS)

Genomes Max Group AF 0.51102028 (EAS)

Exomes Max Group AF 0.50474328 (EAS)

Linked Data - NCBI & NCI

ClinVar Allele:

1238416

ClinVar RCV:

RCV001656846

RCV004542058

ClinVar Variation:

1249325

dbSNP:

3753394

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196651787C>T , CM000663.2:g.196651787C>T	GRCh38
NC_000001.10:g.196620917C>T , CM000663.1:g.196620917C>T	GRCh37
NC_000001.9:g.194887540C>T	NCBI36
NG_007259.1:g.4777C>T , LRG_47:g.4777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.-331C>T	ENSP00000352658.2:n.-331C>T

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