Canonical Allele Identifier: CA422663592

Gene: CFH

Linked Data

• dbSNP Id: rs1653046136
• MyVariant Identifiers: chr1:g.196716362T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747232T>C , CM000663.2:g.196747232T>C	GRCh38
NC_000001.10:g.196716362T>C , CM000663.1:g.196716362T>C	GRCh37
NC_000001.9:g.194982985T>C	NCBI36
NG_007259.1:g.100222T>C , LRG_47:g.100222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4643T>C
ENST00000695970.1:c.3441T>C	ENSP00000512297.1:p.Tyr1147=
ENST00000695971.1:c.3594T>C	ENSP00000512298.1:p.Tyr1198=
ENST00000695972.1:c.*692T>C	ENSP00000512299.1:n.*692T>C
ENST00000695973.1:c.*1979T>C	ENSP00000512300.1:n.*1979T>C
ENST00000695974.1:c.3438T>C	ENSP00000512301.1:p.Tyr1146=
ENST00000695975.1:c.*1742T>C	ENSP00000512302.1:n.*1742T>C
ENST00000695976.1:c.3426T>C	ENSP00000512303.1:p.Tyr1142=
ENST00000695981.1:c.3580+35T>C	ENSP00000512306.1:n.3580+35T>C
ENST00000695984.1:c.1623T>C	ENSP00000512309.1:p.Tyr541=
ENST00000695986.1:c.*3266T>C	ENSP00000512311.1:n.*3266T>C
ENST00000695990.1:n.649T>C
ENST00000696026.1:c.*1897T>C	ENSP00000512335.1:n.*1897T>C
ENST00000696027.1:c.3609T>C	ENSP00000512336.1:p.Tyr1203=
ENST00000696028.1:c.3543T>C	ENSP00000512337.1:p.Tyr1181=
ENST00000696029.1:c.3609T>C	ENSP00000512338.1:p.Tyr1203=
ENST00000696031.1:c.*3133T>C	ENSP00000512340.1:n.*3133T>C
ENST00000696032.1:c.3580+35T>C	ENSP00000512341.1:n.3580+35T>C
ENST00000696033.1:c.1160-32565T>C	ENSP00000512342.1:n.1160-32565T>C
ENST00000367429.9:c.3615T>C MANE Select	ENSP00000356399.4:p.Tyr1205=
ENST00000367429.8:c.3615T>C	ENSP00000356399.4:p.Tyr1205=
ENST00000466229.5:n.6713T>C
NM_000186.3:c.3615T>C , LRG_47t1:c.3615T>C	NP_000177.2:p.Tyr1205=
XR_001737134.2:n.3801T>C
NM_000186.4:c.3615T>C MANE Select	NP_000177.2:p.Tyr1205=