Canonical Allele Identifier: CA343984042

Gene: CFH

Linked Data

• gnomAD v4: 1-196743606-G-A
• MyVariant Identifiers: chr1:g.196712736G>A (hg19) ; chr1:g.196743606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743606G>A , CM000663.2:g.196743606G>A	GRCh38
NC_000001.10:g.196712736G>A , CM000663.1:g.196712736G>A	GRCh37
NC_000001.9:g.194979359G>A	NCBI36
NG_007259.1:g.96596G>A , LRG_47:g.96596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4316G>A
ENST00000695970.1:c.3114G>A	ENSP00000512297.1:p.Trp1038Ter
ENST00000695971.1:c.3267G>A	ENSP00000512298.1:p.Trp1089Ter
ENST00000695972.1:c.*365G>A	ENSP00000512299.1:n.*365G>A
ENST00000695973.1:c.*1652G>A	ENSP00000512300.1:n.*1652G>A
ENST00000695974.1:c.3111G>A	ENSP00000512301.1:p.Trp1037Ter
ENST00000695975.1:c.*1415G>A	ENSP00000512302.1:n.*1415G>A
ENST00000695976.1:c.3099G>A	ENSP00000512303.1:p.Trp1033Ter
ENST00000695981.1:c.3288G>A	ENSP00000512306.1:p.Trp1096Ter
ENST00000695984.1:c.1296G>A	ENSP00000512309.1:p.Trp432Ter
ENST00000695986.1:c.*2939G>A	ENSP00000512311.1:n.*2939G>A
ENST00000696026.1:c.*1570G>A	ENSP00000512335.1:n.*1570G>A
ENST00000696027.1:c.3282G>A	ENSP00000512336.1:p.Trp1094Ter
ENST00000696028.1:c.3216G>A	ENSP00000512337.1:p.Trp1072Ter
ENST00000696029.1:c.3282G>A	ENSP00000512338.1:p.Trp1094Ter
ENST00000696031.1:c.*2806G>A	ENSP00000512340.1:n.*2806G>A
ENST00000696032.1:c.3288G>A	ENSP00000512341.1:p.Trp1096Ter
ENST00000696033.1:c.1160-36191G>A	ENSP00000512342.1:n.1160-36191G>A
ENST00000367429.9:c.3288G>A MANE Select	ENSP00000356399.4:p.Trp1096Ter
ENST00000367429.8:c.3288G>A	ENSP00000356399.4:p.Trp1096Ter
ENST00000466229.5:n.6386G>A
NM_000186.3:c.3288G>A , LRG_47t1:c.3288G>A	NP_000177.2:p.Trp1096Ter
XR_001737134.2:n.3474G>A
NM_000186.4:c.3288G>A MANE Select	NP_000177.2:p.Trp1096Ter