Canonical Allele Identifier: CA343983673

Gene: CFH

Linked Data

• gnomAD v4: 1-196743551-G-T
• MyVariant Identifiers: chr1:g.196712681G>T (hg19) ; chr1:g.196743551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743551G>T , CM000663.2:g.196743551G>T	GRCh38
NC_000001.10:g.196712681G>T , CM000663.1:g.196712681G>T	GRCh37
NC_000001.9:g.194979304G>T	NCBI36
NG_007259.1:g.96541G>T , LRG_47:g.96541G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4261G>T
ENST00000695970.1:c.3059G>T	ENSP00000512297.1:p.Arg1020Met
ENST00000695971.1:c.3212G>T	ENSP00000512298.1:p.Arg1071Met
ENST00000695972.1:c.*310G>T	ENSP00000512299.1:n.*310G>T
ENST00000695973.1:c.*1597G>T	ENSP00000512300.1:n.*1597G>T
ENST00000695974.1:c.3056G>T	ENSP00000512301.1:p.Arg1019Met
ENST00000695975.1:c.*1360G>T	ENSP00000512302.1:n.*1360G>T
ENST00000695976.1:c.3044G>T	ENSP00000512303.1:p.Arg1015Met
ENST00000695981.1:c.3233G>T	ENSP00000512306.1:p.Arg1078Met
ENST00000695984.1:c.1241G>T	ENSP00000512309.1:p.Arg414Met
ENST00000695986.1:c.*2884G>T	ENSP00000512311.1:n.*2884G>T
ENST00000696026.1:c.*1515G>T	ENSP00000512335.1:n.*1515G>T
ENST00000696027.1:c.3227G>T	ENSP00000512336.1:p.Arg1076Met
ENST00000696028.1:c.3161G>T	ENSP00000512337.1:p.Arg1054Met
ENST00000696029.1:c.3227G>T	ENSP00000512338.1:p.Arg1076Met
ENST00000696031.1:c.*2751G>T	ENSP00000512340.1:n.*2751G>T
ENST00000696032.1:c.3233G>T	ENSP00000512341.1:p.Arg1078Met
ENST00000696033.1:c.1160-36246G>T	ENSP00000512342.1:n.1160-36246G>T
ENST00000367429.9:c.3233G>T MANE Select	ENSP00000356399.4:p.Arg1078Met
ENST00000367429.8:c.3233G>T	ENSP00000356399.4:p.Arg1078Met
ENST00000466229.5:n.6331G>T
NM_000186.3:c.3233G>T , LRG_47t1:c.3233G>T	NP_000177.2:p.Arg1078Met
XR_001737134.2:n.3419G>T
NM_000186.4:c.3233G>T MANE Select	NP_000177.2:p.Arg1078Met