Canonical Allele Identifier: CA343982766

Gene: CFH

Linked Data

• gnomAD v4: 1-196743458-C-T
• MyVariant Identifiers: chr1:g.196712588C>T (hg19) ; chr1:g.196743458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743458C>T , CM000663.2:g.196743458C>T	GRCh38
NC_000001.10:g.196712588C>T , CM000663.1:g.196712588C>T	GRCh37
NC_000001.9:g.194979211C>T	NCBI36
NG_007259.1:g.96448C>T , LRG_47:g.96448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4168C>T
ENST00000695970.1:c.2966C>T	ENSP00000512297.1:p.Ser989Phe
ENST00000695971.1:c.3119C>T	ENSP00000512298.1:p.Ser1040Phe
ENST00000695972.1:c.*217C>T	ENSP00000512299.1:n.*217C>T
ENST00000695973.1:c.*1504C>T	ENSP00000512300.1:n.*1504C>T
ENST00000695974.1:c.2963C>T	ENSP00000512301.1:p.Ser988Phe
ENST00000695975.1:c.*1267C>T	ENSP00000512302.1:n.*1267C>T
ENST00000695976.1:c.2951C>T	ENSP00000512303.1:p.Ser984Phe
ENST00000695981.1:c.3140C>T	ENSP00000512306.1:p.Ser1047Phe
ENST00000695984.1:c.1148C>T	ENSP00000512309.1:p.Ser383Phe
ENST00000695986.1:c.*2791C>T	ENSP00000512311.1:n.*2791C>T
ENST00000696026.1:c.*1422C>T	ENSP00000512335.1:n.*1422C>T
ENST00000696027.1:c.3134C>T	ENSP00000512336.1:p.Ser1045Phe
ENST00000696028.1:c.3068C>T	ENSP00000512337.1:p.Ser1023Phe
ENST00000696029.1:c.3134C>T	ENSP00000512338.1:p.Ser1045Phe
ENST00000696031.1:c.*2658C>T	ENSP00000512340.1:n.*2658C>T
ENST00000696032.1:c.3140C>T	ENSP00000512341.1:p.Ser1047Phe
ENST00000696033.1:c.1160-36339C>T	ENSP00000512342.1:n.1160-36339C>T
ENST00000367429.9:c.3140C>T MANE Select	ENSP00000356399.4:p.Ser1047Phe
ENST00000367429.8:c.3140C>T	ENSP00000356399.4:p.Ser1047Phe
ENST00000466229.5:n.6238C>T
NM_000186.3:c.3140C>T , LRG_47t1:c.3140C>T	NP_000177.2:p.Ser1047Phe
XR_001737134.2:n.3326C>T
NM_000186.4:c.3140C>T MANE Select	NP_000177.2:p.Ser1047Phe