Canonical Allele Identifier: CA422662872

Gene: CFH

Linked Data

• gnomAD v4: 1-196743492-T-C
• MyVariant Identifiers: chr1:g.196712622T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743492T>C , CM000663.2:g.196743492T>C	GRCh38
NC_000001.10:g.196712622T>C , CM000663.1:g.196712622T>C	GRCh37
NC_000001.9:g.194979245T>C	NCBI36
NG_007259.1:g.96482T>C , LRG_47:g.96482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4202T>C
ENST00000695970.1:c.3000T>C	ENSP00000512297.1:p.Tyr1000=
ENST00000695971.1:c.3153T>C	ENSP00000512298.1:p.Tyr1051=
ENST00000695972.1:c.*251T>C	ENSP00000512299.1:n.*251T>C
ENST00000695973.1:c.*1538T>C	ENSP00000512300.1:n.*1538T>C
ENST00000695974.1:c.2997T>C	ENSP00000512301.1:p.Tyr999=
ENST00000695975.1:c.*1301T>C	ENSP00000512302.1:n.*1301T>C
ENST00000695976.1:c.2985T>C	ENSP00000512303.1:p.Tyr995=
ENST00000695981.1:c.3174T>C	ENSP00000512306.1:p.Tyr1058=
ENST00000695984.1:c.1182T>C	ENSP00000512309.1:p.Tyr394=
ENST00000695986.1:c.*2825T>C	ENSP00000512311.1:n.*2825T>C
ENST00000696026.1:c.*1456T>C	ENSP00000512335.1:n.*1456T>C
ENST00000696027.1:c.3168T>C	ENSP00000512336.1:p.Tyr1056=
ENST00000696028.1:c.3102T>C	ENSP00000512337.1:p.Tyr1034=
ENST00000696029.1:c.3168T>C	ENSP00000512338.1:p.Tyr1056=
ENST00000696031.1:c.*2692T>C	ENSP00000512340.1:n.*2692T>C
ENST00000696032.1:c.3174T>C	ENSP00000512341.1:p.Tyr1058=
ENST00000696033.1:c.1160-36305T>C	ENSP00000512342.1:n.1160-36305T>C
ENST00000367429.9:c.3174T>C MANE Select	ENSP00000356399.4:p.Tyr1058=
ENST00000367429.8:c.3174T>C	ENSP00000356399.4:p.Tyr1058=
ENST00000466229.5:n.6272T>C
NM_000186.3:c.3174T>C , LRG_47t1:c.3174T>C	NP_000177.2:p.Tyr1058=
XR_001737134.2:n.3360T>C
NM_000186.4:c.3174T>C MANE Select	NP_000177.2:p.Tyr1058=