Canonical Allele Identifier: CA343987433

Gene: CFH

Linked Data

• ClinVar Variation Id: 1175202
• ClinVar RCV Id: RCV001530205
• dbSNP Id: rs2149118700
• MyVariant Identifiers: chr1:g.196716295G>T (hg19) ; chr1:g.196747165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747165G>T , CM000663.2:g.196747165G>T	GRCh38
NC_000001.10:g.196716295G>T , CM000663.1:g.196716295G>T	GRCh37
NC_000001.9:g.194982918G>T	NCBI36
NG_007259.1:g.100155G>T , LRG_47:g.100155G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4576G>T
ENST00000695970.1:c.3374G>T	ENSP00000512297.1:p.Trp1125Leu
ENST00000695971.1:c.3527G>T	ENSP00000512298.1:p.Trp1176Leu
ENST00000695972.1:c.*625G>T	ENSP00000512299.1:n.*625G>T
ENST00000695973.1:c.*1912G>T	ENSP00000512300.1:n.*1912G>T
ENST00000695974.1:c.3371G>T	ENSP00000512301.1:p.Trp1124Leu
ENST00000695975.1:c.*1675G>T	ENSP00000512302.1:n.*1675G>T
ENST00000695976.1:c.3359G>T	ENSP00000512303.1:p.Trp1120Leu
ENST00000695981.1:c.3548G>T	ENSP00000512306.1:p.Trp1183Leu
ENST00000695984.1:c.1556G>T	ENSP00000512309.1:p.Trp519Leu
ENST00000695986.1:c.*3199G>T	ENSP00000512311.1:n.*3199G>T
ENST00000695990.1:n.582G>T
ENST00000696026.1:c.*1830G>T	ENSP00000512335.1:n.*1830G>T
ENST00000696027.1:c.3542G>T	ENSP00000512336.1:p.Trp1181Leu
ENST00000696028.1:c.3476G>T	ENSP00000512337.1:p.Trp1159Leu
ENST00000696029.1:c.3542G>T	ENSP00000512338.1:p.Trp1181Leu
ENST00000696031.1:c.*3066G>T	ENSP00000512340.1:n.*3066G>T
ENST00000696032.1:c.3548G>T	ENSP00000512341.1:p.Trp1183Leu
ENST00000696033.1:c.1160-32632G>T	ENSP00000512342.1:n.1160-32632G>T
ENST00000367429.9:c.3548G>T MANE Select	ENSP00000356399.4:p.Trp1183Leu
ENST00000367429.8:c.3548G>T	ENSP00000356399.4:p.Trp1183Leu
ENST00000466229.5:n.6646G>T
NM_000186.3:c.3548G>T , LRG_47t1:c.3548G>T	NP_000177.2:p.Trp1183Leu
XR_001737134.2:n.3734G>T
NM_000186.4:c.3548G>T MANE Select	NP_000177.2:p.Trp1183Leu