Canonical Allele Identifier: CA343989513

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716432G>C (hg19) ; chr1:g.196747302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747302G>C , CM000663.2:g.196747302G>C	GRCh38
NC_000001.10:g.196716432G>C , CM000663.1:g.196716432G>C	GRCh37
NC_000001.9:g.194983055G>C	NCBI36
NG_007259.1:g.100292G>C , LRG_47:g.100292G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4713G>C
ENST00000695970.1:c.3511G>C	ENSP00000512297.1:p.Ala1171Pro
ENST00000695971.1:c.3664G>C	ENSP00000512298.1:p.Ala1222Pro
ENST00000695972.1:c.*762G>C	ENSP00000512299.1:n.*762G>C
ENST00000695973.1:c.*2049G>C	ENSP00000512300.1:n.*2049G>C
ENST00000695974.1:c.3508G>C	ENSP00000512301.1:p.Ala1170Pro
ENST00000695975.1:c.*1812G>C	ENSP00000512302.1:n.*1812G>C
ENST00000695976.1:c.3496G>C	ENSP00000512303.1:p.Ala1166Pro
ENST00000695981.1:c.3580+105G>C	ENSP00000512306.1:n.3580+105G>C
ENST00000695984.1:c.1693G>C	ENSP00000512309.1:p.Ala565Pro
ENST00000695986.1:c.*3336G>C	ENSP00000512311.1:n.*3336G>C
ENST00000695990.1:n.719G>C
ENST00000696026.1:c.*1967G>C	ENSP00000512335.1:n.*1967G>C
ENST00000696027.1:c.3679G>C	ENSP00000512336.1:p.Ala1227Pro
ENST00000696028.1:c.3613G>C	ENSP00000512337.1:p.Ala1205Pro
ENST00000696029.1:c.3679G>C	ENSP00000512338.1:p.Ala1227Pro
ENST00000696031.1:c.*3203G>C	ENSP00000512340.1:n.*3203G>C
ENST00000696032.1:c.3580+105G>C	ENSP00000512341.1:n.3580+105G>C
ENST00000696033.1:c.1160-32495G>C	ENSP00000512342.1:n.1160-32495G>C
ENST00000367429.9:c.3685G>C MANE Select	ENSP00000356399.4:p.Ala1229Pro
ENST00000367429.8:c.3685G>C	ENSP00000356399.4:p.Ala1229Pro
ENST00000466229.5:n.6783G>C
NM_000186.3:c.3685G>C , LRG_47t1:c.3685G>C	NP_000177.2:p.Ala1229Pro
XR_001737134.2:n.3871G>C
NM_000186.4:c.3685G>C MANE Select	NP_000177.2:p.Ala1229Pro