Canonical Allele Identifier: CA1305475

Gene: CFH

Linked Data

• ClinVar Variation Id: 294495
• ClinVar RCV Id: RCV000282381 ; RCV000317574 ; RCV000336971 ; RCV000372197 ; RCV001850509
• dbSNP Id: rs201411537
• ExAC: 1:196694290 T / C
• gnomAD v2: 1-196694290-T-C
• gnomAD v3: 1-196725160-T-C
• gnomAD v4: 1-196725160-T-C
• MyVariant Identifiers: chr1:g.196694290T>C (hg19) ; chr1:g.196725160T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196725160T>C , CM000663.2:g.196725160T>C	GRCh38
NC_000001.10:g.196694290T>C , CM000663.1:g.196694290T>C	GRCh37
NC_000001.9:g.194960913T>C	NCBI36
NG_007259.1:g.78150T>C , LRG_47:g.78150T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2002T>C
ENST00000695969.1:c.1736T>C	ENSP00000512296.1:p.Val579Ala
ENST00000695970.1:c.1736T>C	ENSP00000512297.1:p.Val579Ala
ENST00000695971.1:c.1715T>C	ENSP00000512298.1:p.Val572Ala
ENST00000695972.1:c.1736T>C	ENSP00000512299.1:p.Val579Ala
ENST00000695973.1:c.*100T>C	ENSP00000512300.1:n.*100T>C
ENST00000695974.1:c.1697-1310T>C	ENSP00000512301.1:n.1697-1310T>C
ENST00000695975.1:c.1736T>C	ENSP00000512302.1:p.Val579Ala
ENST00000695976.1:c.1547T>C	ENSP00000512303.1:p.Val516Ala
ENST00000695981.1:c.1736T>C	ENSP00000512306.1:p.Val579Ala
ENST00000695983.1:c.1736T>C	ENSP00000512308.1:p.Val579Ala
ENST00000695984.1:c.245-3186T>C	ENSP00000512309.1:n.245-3186T>C
ENST00000695986.1:c.*1387T>C	ENSP00000512311.1:n.*1387T>C
ENST00000696025.1:n.1820T>C
ENST00000696026.1:c.*18T>C	ENSP00000512335.1:n.*18T>C
ENST00000696027.1:c.1736T>C	ENSP00000512336.1:p.Val579Ala
ENST00000696028.1:c.1736T>C	ENSP00000512337.1:p.Val579Ala
ENST00000696029.1:c.1736T>C	ENSP00000512338.1:p.Val579Ala
ENST00000696031.1:c.*1254T>C	ENSP00000512340.1:n.*1254T>C
ENST00000696032.1:c.1736T>C	ENSP00000512341.1:p.Val579Ala
ENST00000696033.1:c.1159+35546T>C	ENSP00000512342.1:n.1159+35546T>C
ENST00000367429.9:c.1736T>C MANE Select	ENSP00000356399.4:p.Val579Ala
ENST00000367429.8:c.1736T>C	ENSP00000356399.4:p.Val579Ala
ENST00000466229.5:n.3752T>C
NM_000186.3:c.1736T>C , LRG_47t1:c.1736T>C	NP_000177.2:p.Val579Ala
XR_001737134.2:n.1922T>C
NM_000186.4:c.1736T>C MANE Select	NP_000177.2:p.Val579Ala