Canonical Allele Identifier: CA343987327

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716285G>C (hg19) ; chr1:g.196747155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747155G>C , CM000663.2:g.196747155G>C	GRCh38
NC_000001.10:g.196716285G>C , CM000663.1:g.196716285G>C	GRCh37
NC_000001.9:g.194982908G>C	NCBI36
NG_007259.1:g.100145G>C , LRG_47:g.100145G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4566G>C
ENST00000695970.1:c.3364G>C	ENSP00000512297.1:p.Ala1122Pro
ENST00000695971.1:c.3517G>C	ENSP00000512298.1:p.Ala1173Pro
ENST00000695972.1:c.*615G>C	ENSP00000512299.1:n.*615G>C
ENST00000695973.1:c.*1902G>C	ENSP00000512300.1:n.*1902G>C
ENST00000695974.1:c.3361G>C	ENSP00000512301.1:p.Ala1121Pro
ENST00000695975.1:c.*1665G>C	ENSP00000512302.1:n.*1665G>C
ENST00000695976.1:c.3349G>C	ENSP00000512303.1:p.Ala1117Pro
ENST00000695981.1:c.3538G>C	ENSP00000512306.1:p.Ala1180Pro
ENST00000695984.1:c.1546G>C	ENSP00000512309.1:p.Ala516Pro
ENST00000695986.1:c.*3189G>C	ENSP00000512311.1:n.*3189G>C
ENST00000695990.1:n.572G>C
ENST00000696026.1:c.*1820G>C	ENSP00000512335.1:n.*1820G>C
ENST00000696027.1:c.3532G>C	ENSP00000512336.1:p.Ala1178Pro
ENST00000696028.1:c.3466G>C	ENSP00000512337.1:p.Ala1156Pro
ENST00000696029.1:c.3532G>C	ENSP00000512338.1:p.Ala1178Pro
ENST00000696031.1:c.*3056G>C	ENSP00000512340.1:n.*3056G>C
ENST00000696032.1:c.3538G>C	ENSP00000512341.1:p.Ala1180Pro
ENST00000696033.1:c.1160-32642G>C	ENSP00000512342.1:n.1160-32642G>C
ENST00000367429.9:c.3538G>C MANE Select	ENSP00000356399.4:p.Ala1180Pro
ENST00000367429.8:c.3538G>C	ENSP00000356399.4:p.Ala1180Pro
ENST00000466229.5:n.6636G>C
NM_000186.3:c.3538G>C , LRG_47t1:c.3538G>C	NP_000177.2:p.Ala1180Pro
XR_001737134.2:n.3724G>C
NM_000186.4:c.3538G>C MANE Select	NP_000177.2:p.Ala1180Pro