Canonical Allele Identifier: CA422663523

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716314T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747184T>C , CM000663.2:g.196747184T>C	GRCh38
NC_000001.10:g.196716314T>C , CM000663.1:g.196716314T>C	GRCh37
NC_000001.9:g.194982937T>C	NCBI36
NG_007259.1:g.100174T>C , LRG_47:g.100174T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4595T>C
ENST00000695970.1:c.3393T>C	ENSP00000512297.1:p.Leu1131=
ENST00000695971.1:c.3546T>C	ENSP00000512298.1:p.Leu1182=
ENST00000695972.1:c.*644T>C	ENSP00000512299.1:n.*644T>C
ENST00000695973.1:c.*1931T>C	ENSP00000512300.1:n.*1931T>C
ENST00000695974.1:c.3390T>C	ENSP00000512301.1:p.Leu1130=
ENST00000695975.1:c.*1694T>C	ENSP00000512302.1:n.*1694T>C
ENST00000695976.1:c.3378T>C	ENSP00000512303.1:p.Leu1126=
ENST00000695981.1:c.3567T>C	ENSP00000512306.1:p.Leu1189=
ENST00000695984.1:c.1575T>C	ENSP00000512309.1:p.Leu525=
ENST00000695986.1:c.*3218T>C	ENSP00000512311.1:n.*3218T>C
ENST00000695990.1:n.601T>C
ENST00000696026.1:c.*1849T>C	ENSP00000512335.1:n.*1849T>C
ENST00000696027.1:c.3561T>C	ENSP00000512336.1:p.Leu1187=
ENST00000696028.1:c.3495T>C	ENSP00000512337.1:p.Leu1165=
ENST00000696029.1:c.3561T>C	ENSP00000512338.1:p.Leu1187=
ENST00000696031.1:c.*3085T>C	ENSP00000512340.1:n.*3085T>C
ENST00000696032.1:c.3567T>C	ENSP00000512341.1:p.Leu1189=
ENST00000696033.1:c.1160-32613T>C	ENSP00000512342.1:n.1160-32613T>C
ENST00000367429.9:c.3567T>C MANE Select	ENSP00000356399.4:p.Leu1189=
ENST00000367429.8:c.3567T>C	ENSP00000356399.4:p.Leu1189=
ENST00000466229.5:n.6665T>C
NM_000186.3:c.3567T>C , LRG_47t1:c.3567T>C	NP_000177.2:p.Leu1189=
XR_001737134.2:n.3753T>C
NM_000186.4:c.3567T>C MANE Select	NP_000177.2:p.Leu1189=