Canonical Allele Identifier: CA343982416

Gene: CFH

Linked Data

• gnomAD v4: 1-196713897-C-T
• MyVariant Identifiers: chr1:g.196683027C>T (hg19) ; chr1:g.196713897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713897C>T , CM000663.2:g.196713897C>T	GRCh38
NC_000001.10:g.196683027C>T , CM000663.1:g.196683027C>T	GRCh37
NC_000001.9:g.194949650C>T	NCBI36
NG_007259.1:g.66887C>T , LRG_47:g.66887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1765C>T
ENST00000695969.1:c.1499C>T	ENSP00000512296.1:p.Ser500Leu
ENST00000695970.1:c.1499C>T	ENSP00000512297.1:p.Ser500Leu
ENST00000695971.1:c.1478C>T	ENSP00000512298.1:p.Ser493Leu
ENST00000695972.1:c.1499C>T	ENSP00000512299.1:p.Ser500Leu
ENST00000695973.1:c.1499C>T	ENSP00000512300.1:p.Ser500Leu
ENST00000695974.1:c.1499C>T	ENSP00000512301.1:p.Ser500Leu
ENST00000695975.1:c.1499C>T	ENSP00000512302.1:p.Ser500Leu
ENST00000695976.1:c.1310C>T	ENSP00000512303.1:p.Ser437Leu
ENST00000695981.1:c.1499C>T	ENSP00000512306.1:p.Ser500Leu
ENST00000695983.1:c.1499C>T	ENSP00000512308.1:p.Ser500Leu
ENST00000695984.1:c.245-14449C>T	ENSP00000512309.1:n.245-14449C>T
ENST00000695986.1:c.*1150C>T	ENSP00000512311.1:n.*1150C>T
ENST00000696024.1:n.1583C>T
ENST00000696025.1:n.1583C>T
ENST00000696026.1:c.1499C>T	ENSP00000512335.1:p.Ser500Leu
ENST00000696027.1:c.1499C>T	ENSP00000512336.1:p.Ser500Leu
ENST00000696028.1:c.1499C>T	ENSP00000512337.1:p.Ser500Leu
ENST00000696029.1:c.1499C>T	ENSP00000512338.1:p.Ser500Leu
ENST00000696031.1:c.*1017C>T	ENSP00000512340.1:n.*1017C>T
ENST00000696032.1:c.1499C>T	ENSP00000512341.1:p.Ser500Leu
ENST00000696033.1:c.1159+24283C>T	ENSP00000512342.1:n.1159+24283C>T
ENST00000367429.9:c.1499C>T MANE Select	ENSP00000356399.4:p.Ser500Leu
ENST00000367429.8:c.1499C>T	ENSP00000356399.4:p.Ser500Leu
ENST00000466229.5:n.3515C>T
NM_000186.3:c.1499C>T , LRG_47t1:c.1499C>T	NP_000177.2:p.Ser500Leu
XR_001737134.2:n.1584C>T
NM_000186.4:c.1499C>T MANE Select	NP_000177.2:p.Ser500Leu