Canonical Allele Identifier: CA343983543

Gene: CFH

Linked Data

• gnomAD v4: 1-196743536-T-C
• MyVariant Identifiers: chr1:g.196712666T>C (hg19) ; chr1:g.196743536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743536T>C , CM000663.2:g.196743536T>C	GRCh38
NC_000001.10:g.196712666T>C , CM000663.1:g.196712666T>C	GRCh37
NC_000001.9:g.194979289T>C	NCBI36
NG_007259.1:g.96526T>C , LRG_47:g.96526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4246T>C
ENST00000695970.1:c.3044T>C	ENSP00000512297.1:p.Val1015Ala
ENST00000695971.1:c.3197T>C	ENSP00000512298.1:p.Val1066Ala
ENST00000695972.1:c.*295T>C	ENSP00000512299.1:n.*295T>C
ENST00000695973.1:c.*1582T>C	ENSP00000512300.1:n.*1582T>C
ENST00000695974.1:c.3041T>C	ENSP00000512301.1:p.Val1014Ala
ENST00000695975.1:c.*1345T>C	ENSP00000512302.1:n.*1345T>C
ENST00000695976.1:c.3029T>C	ENSP00000512303.1:p.Val1010Ala
ENST00000695981.1:c.3218T>C	ENSP00000512306.1:p.Val1073Ala
ENST00000695984.1:c.1226T>C	ENSP00000512309.1:p.Val409Ala
ENST00000695986.1:c.*2869T>C	ENSP00000512311.1:n.*2869T>C
ENST00000696026.1:c.*1500T>C	ENSP00000512335.1:n.*1500T>C
ENST00000696027.1:c.3212T>C	ENSP00000512336.1:p.Val1071Ala
ENST00000696028.1:c.3146T>C	ENSP00000512337.1:p.Val1049Ala
ENST00000696029.1:c.3212T>C	ENSP00000512338.1:p.Val1071Ala
ENST00000696031.1:c.*2736T>C	ENSP00000512340.1:n.*2736T>C
ENST00000696032.1:c.3218T>C	ENSP00000512341.1:p.Val1073Ala
ENST00000696033.1:c.1160-36261T>C	ENSP00000512342.1:n.1160-36261T>C
ENST00000367429.9:c.3218T>C MANE Select	ENSP00000356399.4:p.Val1073Ala
ENST00000367429.8:c.3218T>C	ENSP00000356399.4:p.Val1073Ala
ENST00000466229.5:n.6316T>C
NM_000186.3:c.3218T>C , LRG_47t1:c.3218T>C	NP_000177.2:p.Val1073Ala
XR_001737134.2:n.3404T>C
NM_000186.4:c.3218T>C MANE Select	NP_000177.2:p.Val1073Ala