Canonical Allele Identifier: CA343982820

Gene: CFH

Linked Data

• gnomAD v4: 1-196743463-G-T
• MyVariant Identifiers: chr1:g.196712593G>T (hg19) ; chr1:g.196743463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743463G>T , CM000663.2:g.196743463G>T	GRCh38
NC_000001.10:g.196712593G>T , CM000663.1:g.196712593G>T	GRCh37
NC_000001.9:g.194979216G>T	NCBI36
NG_007259.1:g.96453G>T , LRG_47:g.96453G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4173G>T
ENST00000695970.1:c.2971G>T	ENSP00000512297.1:p.Val991Leu
ENST00000695971.1:c.3124G>T	ENSP00000512298.1:p.Val1042Leu
ENST00000695972.1:c.*222G>T	ENSP00000512299.1:n.*222G>T
ENST00000695973.1:c.*1509G>T	ENSP00000512300.1:n.*1509G>T
ENST00000695974.1:c.2968G>T	ENSP00000512301.1:p.Val990Leu
ENST00000695975.1:c.*1272G>T	ENSP00000512302.1:n.*1272G>T
ENST00000695976.1:c.2956G>T	ENSP00000512303.1:p.Val986Leu
ENST00000695981.1:c.3145G>T	ENSP00000512306.1:p.Val1049Leu
ENST00000695984.1:c.1153G>T	ENSP00000512309.1:p.Val385Leu
ENST00000695986.1:c.*2796G>T	ENSP00000512311.1:n.*2796G>T
ENST00000696026.1:c.*1427G>T	ENSP00000512335.1:n.*1427G>T
ENST00000696027.1:c.3139G>T	ENSP00000512336.1:p.Val1047Leu
ENST00000696028.1:c.3073G>T	ENSP00000512337.1:p.Val1025Leu
ENST00000696029.1:c.3139G>T	ENSP00000512338.1:p.Val1047Leu
ENST00000696031.1:c.*2663G>T	ENSP00000512340.1:n.*2663G>T
ENST00000696032.1:c.3145G>T	ENSP00000512341.1:p.Val1049Leu
ENST00000696033.1:c.1160-36334G>T	ENSP00000512342.1:n.1160-36334G>T
ENST00000367429.9:c.3145G>T MANE Select	ENSP00000356399.4:p.Val1049Leu
ENST00000367429.8:c.3145G>T	ENSP00000356399.4:p.Val1049Leu
ENST00000466229.5:n.6243G>T
NM_000186.3:c.3145G>T , LRG_47t1:c.3145G>T	NP_000177.2:p.Val1049Leu
XR_001737134.2:n.3331G>T
NM_000186.4:c.3145G>T MANE Select	NP_000177.2:p.Val1049Leu