Canonical Allele Identifier: CA422663546

Gene: CFH

Linked Data

• gnomAD v4: 1-196747199-T-C
• MyVariant Identifiers: chr1:g.196716329T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747199T>C , CM000663.2:g.196747199T>C	GRCh38
NC_000001.10:g.196716329T>C , CM000663.1:g.196716329T>C	GRCh37
NC_000001.9:g.194982952T>C	NCBI36
NG_007259.1:g.100189T>C , LRG_47:g.100189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4610T>C
ENST00000695970.1:c.3408T>C	ENSP00000512297.1:p.Gly1136=
ENST00000695971.1:c.3561T>C	ENSP00000512298.1:p.Gly1187=
ENST00000695972.1:c.*659T>C	ENSP00000512299.1:n.*659T>C
ENST00000695973.1:c.*1946T>C	ENSP00000512300.1:n.*1946T>C
ENST00000695974.1:c.3405T>C	ENSP00000512301.1:p.Gly1135=
ENST00000695975.1:c.*1709T>C	ENSP00000512302.1:n.*1709T>C
ENST00000695976.1:c.3393T>C	ENSP00000512303.1:p.Gly1131=
ENST00000695981.1:c.3580+2T>C	ENSP00000512306.1:n.3580+2T>C
ENST00000695984.1:c.1590T>C	ENSP00000512309.1:p.Gly530=
ENST00000695986.1:c.*3233T>C	ENSP00000512311.1:n.*3233T>C
ENST00000695990.1:n.616T>C
ENST00000696026.1:c.*1864T>C	ENSP00000512335.1:n.*1864T>C
ENST00000696027.1:c.3576T>C	ENSP00000512336.1:p.Gly1192=
ENST00000696028.1:c.3510T>C	ENSP00000512337.1:p.Gly1170=
ENST00000696029.1:c.3576T>C	ENSP00000512338.1:p.Gly1192=
ENST00000696031.1:c.*3100T>C	ENSP00000512340.1:n.*3100T>C
ENST00000696032.1:c.3580+2T>C	ENSP00000512341.1:n.3580+2T>C
ENST00000696033.1:c.1160-32598T>C	ENSP00000512342.1:n.1160-32598T>C
ENST00000367429.9:c.3582T>C MANE Select	ENSP00000356399.4:p.Gly1194=
ENST00000367429.8:c.3582T>C	ENSP00000356399.4:p.Gly1194=
ENST00000466229.5:n.6680T>C
NM_000186.3:c.3582T>C , LRG_47t1:c.3582T>C	NP_000177.2:p.Gly1194=
XR_001737134.2:n.3768T>C
NM_000186.4:c.3582T>C MANE Select	NP_000177.2:p.Gly1194=