Canonical Allele Identifier: CA343983749

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712690A>C (hg19) ; chr1:g.196743560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743560A>C , CM000663.2:g.196743560A>C	GRCh38
NC_000001.10:g.196712690A>C , CM000663.1:g.196712690A>C	GRCh37
NC_000001.9:g.194979313A>C	NCBI36
NG_007259.1:g.96550A>C , LRG_47:g.96550A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4270A>C
ENST00000695970.1:c.3068A>C	ENSP00000512297.1:p.Tyr1023Ser
ENST00000695971.1:c.3221A>C	ENSP00000512298.1:p.Tyr1074Ser
ENST00000695972.1:c.*319A>C	ENSP00000512299.1:n.*319A>C
ENST00000695973.1:c.*1606A>C	ENSP00000512300.1:n.*1606A>C
ENST00000695974.1:c.3065A>C	ENSP00000512301.1:p.Tyr1022Ser
ENST00000695975.1:c.*1369A>C	ENSP00000512302.1:n.*1369A>C
ENST00000695976.1:c.3053A>C	ENSP00000512303.1:p.Tyr1018Ser
ENST00000695981.1:c.3242A>C	ENSP00000512306.1:p.Tyr1081Ser
ENST00000695984.1:c.1250A>C	ENSP00000512309.1:p.Tyr417Ser
ENST00000695986.1:c.*2893A>C	ENSP00000512311.1:n.*2893A>C
ENST00000696026.1:c.*1524A>C	ENSP00000512335.1:n.*1524A>C
ENST00000696027.1:c.3236A>C	ENSP00000512336.1:p.Tyr1079Ser
ENST00000696028.1:c.3170A>C	ENSP00000512337.1:p.Tyr1057Ser
ENST00000696029.1:c.3236A>C	ENSP00000512338.1:p.Tyr1079Ser
ENST00000696031.1:c.*2760A>C	ENSP00000512340.1:n.*2760A>C
ENST00000696032.1:c.3242A>C	ENSP00000512341.1:p.Tyr1081Ser
ENST00000696033.1:c.1160-36237A>C	ENSP00000512342.1:n.1160-36237A>C
ENST00000367429.9:c.3242A>C MANE Select	ENSP00000356399.4:p.Tyr1081Ser
ENST00000367429.8:c.3242A>C	ENSP00000356399.4:p.Tyr1081Ser
ENST00000466229.5:n.6340A>C
NM_000186.3:c.3242A>C , LRG_47t1:c.3242A>C	NP_000177.2:p.Tyr1081Ser
XR_001737134.2:n.3428A>C
NM_000186.4:c.3242A>C MANE Select	NP_000177.2:p.Tyr1081Ser