Canonical Allele Identifier: CA422663467

Gene: CFH

Linked Data

• dbSNP Id: rs1438529897
• gnomAD v2: 1-196716278-T-C
• gnomAD v4: 1-196747148-T-C
• MyVariant Identifiers: chr1:g.196716278T>C (hg19) ; chr1:g.196747148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747148T>C , CM000663.2:g.196747148T>C	GRCh38
NC_000001.10:g.196716278T>C , CM000663.1:g.196716278T>C	GRCh37
NC_000001.9:g.194982901T>C	NCBI36
NG_007259.1:g.100138T>C , LRG_47:g.100138T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4559T>C
ENST00000695970.1:c.3357T>C	ENSP00000512297.1:p.Tyr1119=
ENST00000695971.1:c.3510T>C	ENSP00000512298.1:p.Tyr1170=
ENST00000695972.1:c.*608T>C	ENSP00000512299.1:n.*608T>C
ENST00000695973.1:c.*1895T>C	ENSP00000512300.1:n.*1895T>C
ENST00000695974.1:c.3354T>C	ENSP00000512301.1:p.Tyr1118=
ENST00000695975.1:c.*1658T>C	ENSP00000512302.1:n.*1658T>C
ENST00000695976.1:c.3342T>C	ENSP00000512303.1:p.Tyr1114=
ENST00000695981.1:c.3531T>C	ENSP00000512306.1:p.Tyr1177=
ENST00000695984.1:c.1539T>C	ENSP00000512309.1:p.Tyr513=
ENST00000695986.1:c.*3182T>C	ENSP00000512311.1:n.*3182T>C
ENST00000695990.1:n.565T>C
ENST00000696026.1:c.*1813T>C	ENSP00000512335.1:n.*1813T>C
ENST00000696027.1:c.3525T>C	ENSP00000512336.1:p.Tyr1175=
ENST00000696028.1:c.3459T>C	ENSP00000512337.1:p.Tyr1153=
ENST00000696029.1:c.3525T>C	ENSP00000512338.1:p.Tyr1175=
ENST00000696031.1:c.*3049T>C	ENSP00000512340.1:n.*3049T>C
ENST00000696032.1:c.3531T>C	ENSP00000512341.1:p.Tyr1177=
ENST00000696033.1:c.1160-32649T>C	ENSP00000512342.1:n.1160-32649T>C
ENST00000367429.9:c.3531T>C MANE Select	ENSP00000356399.4:p.Tyr1177=
ENST00000367429.8:c.3531T>C	ENSP00000356399.4:p.Tyr1177=
ENST00000466229.5:n.6629T>C
NM_000186.3:c.3531T>C , LRG_47t1:c.3531T>C	NP_000177.2:p.Tyr1177=
XR_001737134.2:n.3717T>C
NM_000186.4:c.3531T>C MANE Select	NP_000177.2:p.Tyr1177=