Canonical Allele Identifier: CA343989435

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716427C>A (hg19) ; chr1:g.196747297C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4708C>A
ENST00000695970.1:c.3506C>A	ENSP00000512297.1:p.Thr1169Asn
ENST00000695971.1:c.3659C>A	ENSP00000512298.1:p.Thr1220Asn
ENST00000695972.1:c.*757C>A	ENSP00000512299.1:n.*757C>A
ENST00000695973.1:c.*2044C>A	ENSP00000512300.1:n.*2044C>A
ENST00000695974.1:c.3503C>A	ENSP00000512301.1:p.Thr1168Asn
ENST00000695975.1:c.*1807C>A	ENSP00000512302.1:n.*1807C>A
ENST00000695976.1:c.3491C>A	ENSP00000512303.1:p.Thr1164Asn
ENST00000695981.1:c.3580+100C>A	ENSP00000512306.1:n.3580+100C>A
ENST00000695984.1:c.1688C>A	ENSP00000512309.1:p.Thr563Asn
ENST00000695986.1:c.*3331C>A	ENSP00000512311.1:n.*3331C>A
ENST00000695990.1:n.714C>A
ENST00000696026.1:c.*1962C>A	ENSP00000512335.1:n.*1962C>A
ENST00000696027.1:c.3674C>A	ENSP00000512336.1:p.Thr1225Asn
ENST00000696028.1:c.3608C>A	ENSP00000512337.1:p.Thr1203Asn
ENST00000696029.1:c.3674C>A	ENSP00000512338.1:p.Thr1225Asn
ENST00000696031.1:c.*3198C>A	ENSP00000512340.1:n.*3198C>A
ENST00000696032.1:c.3580+100C>A	ENSP00000512341.1:n.3580+100C>A
ENST00000696033.1:c.1160-32500C>A	ENSP00000512342.1:n.1160-32500C>A
ENST00000367429.9:c.3680C>A MANE Select	ENSP00000356399.4:p.Thr1227Asn
ENST00000367429.8:c.3680C>A	ENSP00000356399.4:p.Thr1227Asn
ENST00000466229.5:n.6778C>A
NM_000186.3:c.3680C>A , LRG_47t1:c.3680C>A	NP_000177.2:p.Thr1227Asn
XR_001737134.2:n.3866C>A
NM_000186.4:c.3680C>A MANE Select	NP_000177.2:p.Thr1227Asn