Canonical Allele Identifier: CA422662883

Gene: CFH

Linked Data

• gnomAD v4: 1-196743513-T-C
• MyVariant Identifiers: chr1:g.196712643T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743513T>C , CM000663.2:g.196743513T>C	GRCh38
NC_000001.10:g.196712643T>C , CM000663.1:g.196712643T>C	GRCh37
NC_000001.9:g.194979266T>C	NCBI36
NG_007259.1:g.96503T>C , LRG_47:g.96503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4223T>C
ENST00000695970.1:c.3021T>C	ENSP00000512297.1:p.Ser1007=
ENST00000695971.1:c.3174T>C	ENSP00000512298.1:p.Ser1058=
ENST00000695972.1:c.*272T>C	ENSP00000512299.1:n.*272T>C
ENST00000695973.1:c.*1559T>C	ENSP00000512300.1:n.*1559T>C
ENST00000695974.1:c.3018T>C	ENSP00000512301.1:p.Ser1006=
ENST00000695975.1:c.*1322T>C	ENSP00000512302.1:n.*1322T>C
ENST00000695976.1:c.3006T>C	ENSP00000512303.1:p.Ser1002=
ENST00000695981.1:c.3195T>C	ENSP00000512306.1:p.Ser1065=
ENST00000695984.1:c.1203T>C	ENSP00000512309.1:p.Ser401=
ENST00000695986.1:c.*2846T>C	ENSP00000512311.1:n.*2846T>C
ENST00000696026.1:c.*1477T>C	ENSP00000512335.1:n.*1477T>C
ENST00000696027.1:c.3189T>C	ENSP00000512336.1:p.Ser1063=
ENST00000696028.1:c.3123T>C	ENSP00000512337.1:p.Ser1041=
ENST00000696029.1:c.3189T>C	ENSP00000512338.1:p.Ser1063=
ENST00000696031.1:c.*2713T>C	ENSP00000512340.1:n.*2713T>C
ENST00000696032.1:c.3195T>C	ENSP00000512341.1:p.Ser1065=
ENST00000696033.1:c.1160-36284T>C	ENSP00000512342.1:n.1160-36284T>C
ENST00000367429.9:c.3195T>C MANE Select	ENSP00000356399.4:p.Ser1065=
ENST00000367429.8:c.3195T>C	ENSP00000356399.4:p.Ser1065=
ENST00000466229.5:n.6293T>C
NM_000186.3:c.3195T>C , LRG_47t1:c.3195T>C	NP_000177.2:p.Ser1065=
XR_001737134.2:n.3381T>C
NM_000186.4:c.3195T>C MANE Select	NP_000177.2:p.Ser1065=