Canonical Allele Identifier: CA422663842

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716410G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747280G>C , CM000663.2:g.196747280G>C	GRCh38
NC_000001.10:g.196716410G>C , CM000663.1:g.196716410G>C	GRCh37
NC_000001.9:g.194983033G>C	NCBI36
NG_007259.1:g.100270G>C , LRG_47:g.100270G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4691G>C
ENST00000695970.1:c.3489G>C	ENSP00000512297.1:p.Gly1163=
ENST00000695971.1:c.3642G>C	ENSP00000512298.1:p.Gly1214=
ENST00000695972.1:c.*740G>C	ENSP00000512299.1:n.*740G>C
ENST00000695973.1:c.*2027G>C	ENSP00000512300.1:n.*2027G>C
ENST00000695974.1:c.3486G>C	ENSP00000512301.1:p.Gly1162=
ENST00000695975.1:c.*1790G>C	ENSP00000512302.1:n.*1790G>C
ENST00000695976.1:c.3474G>C	ENSP00000512303.1:p.Gly1158=
ENST00000695981.1:c.3580+83G>C	ENSP00000512306.1:n.3580+83G>C
ENST00000695984.1:c.1671G>C	ENSP00000512309.1:p.Gly557=
ENST00000695986.1:c.*3314G>C	ENSP00000512311.1:n.*3314G>C
ENST00000695990.1:n.697G>C
ENST00000696026.1:c.*1945G>C	ENSP00000512335.1:n.*1945G>C
ENST00000696027.1:c.3657G>C	ENSP00000512336.1:p.Gly1219=
ENST00000696028.1:c.3591G>C	ENSP00000512337.1:p.Gly1197=
ENST00000696029.1:c.3657G>C	ENSP00000512338.1:p.Gly1219=
ENST00000696031.1:c.*3181G>C	ENSP00000512340.1:n.*3181G>C
ENST00000696032.1:c.3580+83G>C	ENSP00000512341.1:n.3580+83G>C
ENST00000696033.1:c.1160-32517G>C	ENSP00000512342.1:n.1160-32517G>C
ENST00000367429.9:c.3663G>C MANE Select	ENSP00000356399.4:p.Gly1221=
ENST00000367429.8:c.3663G>C	ENSP00000356399.4:p.Gly1221=
ENST00000466229.5:n.6761G>C
NM_000186.3:c.3663G>C , LRG_47t1:c.3663G>C	NP_000177.2:p.Gly1221=
XR_001737134.2:n.3849G>C
NM_000186.4:c.3663G>C MANE Select	NP_000177.2:p.Gly1221=