Canonical Allele Identifier: CA422663836

Gene: CFH

Linked Data

• gnomAD v4: 1-196747277-T-C
• MyVariant Identifiers: chr1:g.196716407T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747277T>C , CM000663.2:g.196747277T>C	GRCh38
NC_000001.10:g.196716407T>C , CM000663.1:g.196716407T>C	GRCh37
NC_000001.9:g.194983030T>C	NCBI36
NG_007259.1:g.100267T>C , LRG_47:g.100267T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4688T>C
ENST00000695970.1:c.3486T>C	ENSP00000512297.1:p.Asp1162=
ENST00000695971.1:c.3639T>C	ENSP00000512298.1:p.Asp1213=
ENST00000695972.1:c.*737T>C	ENSP00000512299.1:n.*737T>C
ENST00000695973.1:c.*2024T>C	ENSP00000512300.1:n.*2024T>C
ENST00000695974.1:c.3483T>C	ENSP00000512301.1:p.Asp1161=
ENST00000695975.1:c.*1787T>C	ENSP00000512302.1:n.*1787T>C
ENST00000695976.1:c.3471T>C	ENSP00000512303.1:p.Asp1157=
ENST00000695981.1:c.3580+80T>C	ENSP00000512306.1:n.3580+80T>C
ENST00000695984.1:c.1668T>C	ENSP00000512309.1:p.Asp556=
ENST00000695986.1:c.*3311T>C	ENSP00000512311.1:n.*3311T>C
ENST00000695990.1:n.694T>C
ENST00000696026.1:c.*1942T>C	ENSP00000512335.1:n.*1942T>C
ENST00000696027.1:c.3654T>C	ENSP00000512336.1:p.Asp1218=
ENST00000696028.1:c.3588T>C	ENSP00000512337.1:p.Asp1196=
ENST00000696029.1:c.3654T>C	ENSP00000512338.1:p.Asp1218=
ENST00000696031.1:c.*3178T>C	ENSP00000512340.1:n.*3178T>C
ENST00000696032.1:c.3580+80T>C	ENSP00000512341.1:n.3580+80T>C
ENST00000696033.1:c.1160-32520T>C	ENSP00000512342.1:n.1160-32520T>C
ENST00000367429.9:c.3660T>C MANE Select	ENSP00000356399.4:p.Asp1220=
ENST00000367429.8:c.3660T>C	ENSP00000356399.4:p.Asp1220=
ENST00000466229.5:n.6758T>C
NM_000186.3:c.3660T>C , LRG_47t1:c.3660T>C	NP_000177.2:p.Asp1220=
XR_001737134.2:n.3846T>C
NM_000186.4:c.3660T>C MANE Select	NP_000177.2:p.Asp1220=