Canonical Allele Identifier: CA1306002

Gene: CFH

Linked Data

• dbSNP Id: rs773524517
• ExAC: 1:196716427 C / T
• gnomAD v2: 1-196716427-C-T
• gnomAD v4: 1-196747297-C-T
• MyVariant Identifiers: chr1:g.196716427C>T (hg19) ; chr1:g.196747297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747297C>T , CM000663.2:g.196747297C>T	GRCh38
NC_000001.10:g.196716427C>T , CM000663.1:g.196716427C>T	GRCh37
NC_000001.9:g.194983050C>T	NCBI36
NG_007259.1:g.100287C>T , LRG_47:g.100287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4708C>T
ENST00000695970.1:c.3506C>T	ENSP00000512297.1:p.Thr1169Ile
ENST00000695971.1:c.3659C>T	ENSP00000512298.1:p.Thr1220Ile
ENST00000695972.1:c.*757C>T	ENSP00000512299.1:n.*757C>T
ENST00000695973.1:c.*2044C>T	ENSP00000512300.1:n.*2044C>T
ENST00000695974.1:c.3503C>T	ENSP00000512301.1:p.Thr1168Ile
ENST00000695975.1:c.*1807C>T	ENSP00000512302.1:n.*1807C>T
ENST00000695976.1:c.3491C>T	ENSP00000512303.1:p.Thr1164Ile
ENST00000695981.1:c.3580+100C>T	ENSP00000512306.1:n.3580+100C>T
ENST00000695984.1:c.1688C>T	ENSP00000512309.1:p.Thr563Ile
ENST00000695986.1:c.*3331C>T	ENSP00000512311.1:n.*3331C>T
ENST00000695990.1:n.714C>T
ENST00000696026.1:c.*1962C>T	ENSP00000512335.1:n.*1962C>T
ENST00000696027.1:c.3674C>T	ENSP00000512336.1:p.Thr1225Ile
ENST00000696028.1:c.3608C>T	ENSP00000512337.1:p.Thr1203Ile
ENST00000696029.1:c.3674C>T	ENSP00000512338.1:p.Thr1225Ile
ENST00000696031.1:c.*3198C>T	ENSP00000512340.1:n.*3198C>T
ENST00000696032.1:c.3580+100C>T	ENSP00000512341.1:n.3580+100C>T
ENST00000696033.1:c.1160-32500C>T	ENSP00000512342.1:n.1160-32500C>T
ENST00000367429.9:c.3680C>T MANE Select	ENSP00000356399.4:p.Thr1227Ile
ENST00000367429.8:c.3680C>T	ENSP00000356399.4:p.Thr1227Ile
ENST00000466229.5:n.6778C>T
NM_000186.3:c.3680C>T , LRG_47t1:c.3680C>T	NP_000177.2:p.Thr1227Ile
XR_001737134.2:n.3866C>T
NM_000186.4:c.3680C>T MANE Select	NP_000177.2:p.Thr1227Ile