Canonical Allele Identifier: CA343989222

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716409G>C (hg19) ; chr1:g.196747279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747279G>C , CM000663.2:g.196747279G>C	GRCh38
NC_000001.10:g.196716409G>C , CM000663.1:g.196716409G>C	GRCh37
NC_000001.9:g.194983032G>C	NCBI36
NG_007259.1:g.100269G>C , LRG_47:g.100269G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4690G>C
ENST00000695970.1:c.3488G>C	ENSP00000512297.1:p.Gly1163Ala
ENST00000695971.1:c.3641G>C	ENSP00000512298.1:p.Gly1214Ala
ENST00000695972.1:c.*739G>C	ENSP00000512299.1:n.*739G>C
ENST00000695973.1:c.*2026G>C	ENSP00000512300.1:n.*2026G>C
ENST00000695974.1:c.3485G>C	ENSP00000512301.1:p.Gly1162Ala
ENST00000695975.1:c.*1789G>C	ENSP00000512302.1:n.*1789G>C
ENST00000695976.1:c.3473G>C	ENSP00000512303.1:p.Gly1158Ala
ENST00000695981.1:c.3580+82G>C	ENSP00000512306.1:n.3580+82G>C
ENST00000695984.1:c.1670G>C	ENSP00000512309.1:p.Gly557Ala
ENST00000695986.1:c.*3313G>C	ENSP00000512311.1:n.*3313G>C
ENST00000695990.1:n.696G>C
ENST00000696026.1:c.*1944G>C	ENSP00000512335.1:n.*1944G>C
ENST00000696027.1:c.3656G>C	ENSP00000512336.1:p.Gly1219Ala
ENST00000696028.1:c.3590G>C	ENSP00000512337.1:p.Gly1197Ala
ENST00000696029.1:c.3656G>C	ENSP00000512338.1:p.Gly1219Ala
ENST00000696031.1:c.*3180G>C	ENSP00000512340.1:n.*3180G>C
ENST00000696032.1:c.3580+82G>C	ENSP00000512341.1:n.3580+82G>C
ENST00000696033.1:c.1160-32518G>C	ENSP00000512342.1:n.1160-32518G>C
ENST00000367429.9:c.3662G>C MANE Select	ENSP00000356399.4:p.Gly1221Ala
ENST00000367429.8:c.3662G>C	ENSP00000356399.4:p.Gly1221Ala
ENST00000466229.5:n.6760G>C
NM_000186.3:c.3662G>C , LRG_47t1:c.3662G>C	NP_000177.2:p.Gly1221Ala
XR_001737134.2:n.3848G>C
NM_000186.4:c.3662G>C MANE Select	NP_000177.2:p.Gly1221Ala