Canonical Allele Identifier: CA729702639

Gene: CFH

Linked Data

• dbSNP Id: rs1329230842
• gnomAD v3: 1-196727763-G-C
• gnomAD v4: 1-196727763-G-C
• MyVariant Identifiers: chr1:g.196696893G>C (hg19) ; chr1:g.196727763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196727763G>C , CM000663.2:g.196727763G>C	GRCh38
NC_000001.10:g.196696893G>C , CM000663.1:g.196696893G>C	GRCh37
NC_000001.9:g.194963516G>C	NCBI36
NG_007259.1:g.80753G>C , LRG_47:g.80753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2503-583G>C
ENST00000695969.1:c.2237-583G>C	ENSP00000512296.1:n.2237-583G>C
ENST00000695970.1:c.2237-583G>C	ENSP00000512297.1:n.2237-583G>C
ENST00000695971.1:c.2216-583G>C	ENSP00000512298.1:n.2216-583G>C
ENST00000695972.1:c.2232+827G>C	ENSP00000512299.1:n.2232+827G>C
ENST00000695973.1:c.*601-583G>C	ENSP00000512300.1:n.*601-583G>C
ENST00000695974.1:c.2060-583G>C	ENSP00000512301.1:n.2060-583G>C
ENST00000695975.1:c.*364-583G>C	ENSP00000512302.1:n.*364-583G>C
ENST00000695976.1:c.2048-583G>C	ENSP00000512303.1:n.2048-583G>C
ENST00000695981.1:c.2237-583G>C	ENSP00000512306.1:n.2237-583G>C
ENST00000695983.1:c.2237-583G>C	ENSP00000512308.1:n.2237-583G>C
ENST00000695984.1:c.245-583G>C	ENSP00000512309.1:n.245-583G>C
ENST00000695986.1:c.*1888-583G>C	ENSP00000512311.1:n.*1888-583G>C
ENST00000696025.1:n.2321-583G>C
ENST00000696026.1:c.*519-583G>C	ENSP00000512335.1:n.*519-583G>C
ENST00000696027.1:c.2237-589G>C	ENSP00000512336.1:n.2237-589G>C
ENST00000696028.1:c.2237-583G>C	ENSP00000512337.1:n.2237-583G>C
ENST00000696029.1:c.2237-583G>C	ENSP00000512338.1:n.2237-583G>C
ENST00000696031.1:c.*1755-583G>C	ENSP00000512340.1:n.*1755-583G>C
ENST00000696032.1:c.2237-583G>C	ENSP00000512341.1:n.2237-583G>C
ENST00000696033.1:c.1159+38149G>C	ENSP00000512342.1:n.1159+38149G>C
ENST00000367429.9:c.2237-583G>C MANE Select	ENSP00000356399.4:n.2237-583G>C
ENST00000367429.8:c.2237-583G>C	ENSP00000356399.4:n.2237-583G>C
ENST00000466229.5:n.4253-583G>C
NM_000186.3:c.2237-583G>C , LRG_47t1:c.2237-583G>C	NP_000177.2:n.2237-583G>C
XR_001737134.2:n.2423-583G>C
NM_000186.4:c.2237-583G>C MANE Select	NP_000177.2:n.2237-583G>C