Canonical Allele Identifier: CA343983398

Gene: CFH

Linked Data

• gnomAD v4: 1-196743517-T-C
• MyVariant Identifiers: chr1:g.196712647T>C (hg19) ; chr1:g.196743517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743517T>C , CM000663.2:g.196743517T>C	GRCh38
NC_000001.10:g.196712647T>C , CM000663.1:g.196712647T>C	GRCh37
NC_000001.9:g.194979270T>C	NCBI36
NG_007259.1:g.96507T>C , LRG_47:g.96507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4227T>C
ENST00000695970.1:c.3025T>C	ENSP00000512297.1:p.Tyr1009His
ENST00000695971.1:c.3178T>C	ENSP00000512298.1:p.Tyr1060His
ENST00000695972.1:c.*276T>C	ENSP00000512299.1:n.*276T>C
ENST00000695973.1:c.*1563T>C	ENSP00000512300.1:n.*1563T>C
ENST00000695974.1:c.3022T>C	ENSP00000512301.1:p.Tyr1008His
ENST00000695975.1:c.*1326T>C	ENSP00000512302.1:n.*1326T>C
ENST00000695976.1:c.3010T>C	ENSP00000512303.1:p.Tyr1004His
ENST00000695981.1:c.3199T>C	ENSP00000512306.1:p.Tyr1067His
ENST00000695984.1:c.1207T>C	ENSP00000512309.1:p.Tyr403His
ENST00000695986.1:c.*2850T>C	ENSP00000512311.1:n.*2850T>C
ENST00000696026.1:c.*1481T>C	ENSP00000512335.1:n.*1481T>C
ENST00000696027.1:c.3193T>C	ENSP00000512336.1:p.Tyr1065His
ENST00000696028.1:c.3127T>C	ENSP00000512337.1:p.Tyr1043His
ENST00000696029.1:c.3193T>C	ENSP00000512338.1:p.Tyr1065His
ENST00000696031.1:c.*2717T>C	ENSP00000512340.1:n.*2717T>C
ENST00000696032.1:c.3199T>C	ENSP00000512341.1:p.Tyr1067His
ENST00000696033.1:c.1160-36280T>C	ENSP00000512342.1:n.1160-36280T>C
ENST00000367429.9:c.3199T>C MANE Select	ENSP00000356399.4:p.Tyr1067His
ENST00000367429.8:c.3199T>C	ENSP00000356399.4:p.Tyr1067His
ENST00000466229.5:n.6297T>C
NM_000186.3:c.3199T>C , LRG_47t1:c.3199T>C	NP_000177.2:p.Tyr1067His
XR_001737134.2:n.3385T>C
NM_000186.4:c.3199T>C MANE Select	NP_000177.2:p.Tyr1067His