Canonical Allele Identifier: CA2649646819

Gene: CFH

Linked Data

• gnomAD v4: 1-196743395-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743395T>C , CM000663.2:g.196743395T>C	GRCh38
NC_000001.10:g.196712525T>C , CM000663.1:g.196712525T>C	GRCh37
NC_000001.9:g.194979148T>C	NCBI36
NG_007259.1:g.96385T>C , LRG_47:g.96385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-57T>C
ENST00000695970.1:c.2960-57T>C	ENSP00000512297.1:n.2960-57T>C
ENST00000695971.1:c.3113-57T>C	ENSP00000512298.1:n.3113-57T>C
ENST00000695972.1:c.*211-57T>C	ENSP00000512299.1:n.*211-57T>C
ENST00000695973.1:c.*1498-57T>C	ENSP00000512300.1:n.*1498-57T>C
ENST00000695974.1:c.2957-57T>C	ENSP00000512301.1:n.2957-57T>C
ENST00000695975.1:c.*1261-57T>C	ENSP00000512302.1:n.*1261-57T>C
ENST00000695976.1:c.2945-57T>C	ENSP00000512303.1:n.2945-57T>C
ENST00000695981.1:c.3134-57T>C	ENSP00000512306.1:n.3134-57T>C
ENST00000695984.1:c.1142-57T>C	ENSP00000512309.1:n.1142-57T>C
ENST00000695986.1:c.*2785-57T>C	ENSP00000512311.1:n.*2785-57T>C
ENST00000696026.1:c.*1416-57T>C	ENSP00000512335.1:n.*1416-57T>C
ENST00000696027.1:c.3128-57T>C	ENSP00000512336.1:n.3128-57T>C
ENST00000696028.1:c.3062-57T>C	ENSP00000512337.1:n.3062-57T>C
ENST00000696029.1:c.3128-57T>C	ENSP00000512338.1:n.3128-57T>C
ENST00000696031.1:c.*2652-57T>C	ENSP00000512340.1:n.*2652-57T>C
ENST00000696032.1:c.3134-57T>C	ENSP00000512341.1:n.3134-57T>C
ENST00000696033.1:c.1160-36402T>C	ENSP00000512342.1:n.1160-36402T>C
ENST00000367429.9:c.3134-57T>C MANE Select	ENSP00000356399.4:n.3134-57T>C
ENST00000367429.8:c.3134-57T>C	ENSP00000356399.4:n.3134-57T>C
ENST00000466229.5:n.6232-57T>C
NM_000186.3:c.3134-57T>C , LRG_47t1:c.3134-57T>C	NP_000177.2:n.3134-57T>C
XR_001737134.2:n.3320-57T>C
NM_000186.4:c.3134-57T>C MANE Select	NP_000177.2:n.3134-57T>C