Canonical Allele Identifier: CA35850089

Gene: CFH

Linked Data

• dbSNP Id: rs748766950
• gnomAD v2: 1-196682763-G-T
• gnomAD v3: 1-196713633-G-T
• gnomAD v4: 1-196713633-G-T
• MyVariant Identifiers: chr1:g.196682763G>T (hg19) ; chr1:g.196713633G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713633G>T , CM000663.2:g.196713633G>T	GRCh38
NC_000001.10:g.196682763G>T , CM000663.1:g.196682763G>T	GRCh37
NC_000001.9:g.194949386G>T	NCBI36
NG_007259.1:g.66623G>T , LRG_47:g.66623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1603-102G>T
ENST00000695969.1:c.1337-102G>T	ENSP00000512296.1:n.1337-102G>T
ENST00000695970.1:c.1337-102G>T	ENSP00000512297.1:n.1337-102G>T
ENST00000695971.1:c.1316-102G>T	ENSP00000512298.1:n.1316-102G>T
ENST00000695972.1:c.1337-102G>T	ENSP00000512299.1:n.1337-102G>T
ENST00000695973.1:c.1337-102G>T	ENSP00000512300.1:n.1337-102G>T
ENST00000695974.1:c.1337-102G>T	ENSP00000512301.1:n.1337-102G>T
ENST00000695975.1:c.1337-102G>T	ENSP00000512302.1:n.1337-102G>T
ENST00000695976.1:c.1148-102G>T	ENSP00000512303.1:n.1148-102G>T
ENST00000695981.1:c.1337-102G>T	ENSP00000512306.1:n.1337-102G>T
ENST00000695983.1:c.1337-102G>T	ENSP00000512308.1:n.1337-102G>T
ENST00000695984.1:c.245-14713G>T	ENSP00000512309.1:n.245-14713G>T
ENST00000695986.1:c.*988-102G>T	ENSP00000512311.1:n.*988-102G>T
ENST00000696024.1:n.1421-102G>T
ENST00000696025.1:n.1421-102G>T
ENST00000696026.1:c.1337-102G>T	ENSP00000512335.1:n.1337-102G>T
ENST00000696027.1:c.1337-102G>T	ENSP00000512336.1:n.1337-102G>T
ENST00000696028.1:c.1337-102G>T	ENSP00000512337.1:n.1337-102G>T
ENST00000696029.1:c.1337-102G>T	ENSP00000512338.1:n.1337-102G>T
ENST00000696031.1:c.*855-102G>T	ENSP00000512340.1:n.*855-102G>T
ENST00000696032.1:c.1337-102G>T	ENSP00000512341.1:n.1337-102G>T
ENST00000696033.1:c.1159+24019G>T	ENSP00000512342.1:n.1159+24019G>T
ENST00000367429.9:c.1337-102G>T MANE Select	ENSP00000356399.4:n.1337-102G>T
ENST00000367429.8:c.1337-102G>T	ENSP00000356399.4:n.1337-102G>T
ENST00000466229.5:n.3353-102G>T
NM_000186.3:c.1337-102G>T , LRG_47t1:c.1337-102G>T	NP_000177.2:n.1337-102G>T
XR_001737134.2:n.1422-102G>T
NM_000186.4:c.1337-102G>T MANE Select	NP_000177.2:n.1337-102G>T