Canonical Allele Identifier: CA1305891

Gene: CFH

Linked Data

• dbSNP Id: rs769296787
• ExAC: 1:196712703 G / T
• gnomAD v2: 1-196712703-G-T
• gnomAD v3: 1-196743573-G-T
• gnomAD v4: 1-196743573-G-T
• COSMIC: COSM127623
• MyVariant Identifiers: chr1:g.196712703G>T (hg19) ; chr1:g.196743573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743573G>T , CM000663.2:g.196743573G>T	GRCh38
NC_000001.10:g.196712703G>T , CM000663.1:g.196712703G>T	GRCh37
NC_000001.9:g.194979326G>T	NCBI36
NG_007259.1:g.96563G>T , LRG_47:g.96563G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4283G>T
ENST00000695970.1:c.3081G>T	ENSP00000512297.1:p.Gly1027=
ENST00000695971.1:c.3234G>T	ENSP00000512298.1:p.Gly1078=
ENST00000695972.1:c.*332G>T	ENSP00000512299.1:n.*332G>T
ENST00000695973.1:c.*1619G>T	ENSP00000512300.1:n.*1619G>T
ENST00000695974.1:c.3078G>T	ENSP00000512301.1:p.Gly1026=
ENST00000695975.1:c.*1382G>T	ENSP00000512302.1:n.*1382G>T
ENST00000695976.1:c.3066G>T	ENSP00000512303.1:p.Gly1022=
ENST00000695981.1:c.3255G>T	ENSP00000512306.1:p.Gly1085=
ENST00000695984.1:c.1263G>T	ENSP00000512309.1:p.Gly421=
ENST00000695986.1:c.*2906G>T	ENSP00000512311.1:n.*2906G>T
ENST00000696026.1:c.*1537G>T	ENSP00000512335.1:n.*1537G>T
ENST00000696027.1:c.3249G>T	ENSP00000512336.1:p.Gly1083=
ENST00000696028.1:c.3183G>T	ENSP00000512337.1:p.Gly1061=
ENST00000696029.1:c.3249G>T	ENSP00000512338.1:p.Gly1083=
ENST00000696031.1:c.*2773G>T	ENSP00000512340.1:n.*2773G>T
ENST00000696032.1:c.3255G>T	ENSP00000512341.1:p.Gly1085=
ENST00000696033.1:c.1160-36224G>T	ENSP00000512342.1:n.1160-36224G>T
ENST00000367429.9:c.3255G>T MANE Select	ENSP00000356399.4:p.Gly1085=
ENST00000367429.8:c.3255G>T	ENSP00000356399.4:p.Gly1085=
ENST00000466229.5:n.6353G>T
NM_000186.3:c.3255G>T , LRG_47t1:c.3255G>T	NP_000177.2:p.Gly1085=
XR_001737134.2:n.3441G>T
NM_000186.4:c.3255G>T MANE Select	NP_000177.2:p.Gly1085=