Canonical Allele Identifier: CA343983851

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712701G>T (hg19) ; chr1:g.196743571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743571G>T , CM000663.2:g.196743571G>T	GRCh38
NC_000001.10:g.196712701G>T , CM000663.1:g.196712701G>T	GRCh37
NC_000001.9:g.194979324G>T	NCBI36
NG_007259.1:g.96561G>T , LRG_47:g.96561G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4281G>T
ENST00000695970.1:c.3079G>T	ENSP00000512297.1:p.Gly1027Trp
ENST00000695971.1:c.3232G>T	ENSP00000512298.1:p.Gly1078Trp
ENST00000695972.1:c.*330G>T	ENSP00000512299.1:n.*330G>T
ENST00000695973.1:c.*1617G>T	ENSP00000512300.1:n.*1617G>T
ENST00000695974.1:c.3076G>T	ENSP00000512301.1:p.Gly1026Trp
ENST00000695975.1:c.*1380G>T	ENSP00000512302.1:n.*1380G>T
ENST00000695976.1:c.3064G>T	ENSP00000512303.1:p.Gly1022Trp
ENST00000695981.1:c.3253G>T	ENSP00000512306.1:p.Gly1085Trp
ENST00000695984.1:c.1261G>T	ENSP00000512309.1:p.Gly421Trp
ENST00000695986.1:c.*2904G>T	ENSP00000512311.1:n.*2904G>T
ENST00000696026.1:c.*1535G>T	ENSP00000512335.1:n.*1535G>T
ENST00000696027.1:c.3247G>T	ENSP00000512336.1:p.Gly1083Trp
ENST00000696028.1:c.3181G>T	ENSP00000512337.1:p.Gly1061Trp
ENST00000696029.1:c.3247G>T	ENSP00000512338.1:p.Gly1083Trp
ENST00000696031.1:c.*2771G>T	ENSP00000512340.1:n.*2771G>T
ENST00000696032.1:c.3253G>T	ENSP00000512341.1:p.Gly1085Trp
ENST00000696033.1:c.1160-36226G>T	ENSP00000512342.1:n.1160-36226G>T
ENST00000367429.9:c.3253G>T MANE Select	ENSP00000356399.4:p.Gly1085Trp
ENST00000367429.8:c.3253G>T	ENSP00000356399.4:p.Gly1085Trp
ENST00000466229.5:n.6351G>T
NM_000186.3:c.3253G>T , LRG_47t1:c.3253G>T	NP_000177.2:p.Gly1085Trp
XR_001737134.2:n.3439G>T
NM_000186.4:c.3253G>T MANE Select	NP_000177.2:p.Gly1085Trp