Canonical Allele Identifier: CA343987021

Gene: CFH

Linked Data

• dbSNP Id: rs1444285365
• gnomAD v4: 1-196747126-C-T
• MyVariant Identifiers: chr1:g.196716256C>T (hg19) ; chr1:g.196747126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747126C>T , CM000663.2:g.196747126C>T	GRCh38
NC_000001.10:g.196716256C>T , CM000663.1:g.196716256C>T	GRCh37
NC_000001.9:g.194982879C>T	NCBI36
NG_007259.1:g.100116C>T , LRG_47:g.100116C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4537C>T
ENST00000695970.1:c.3335C>T	ENSP00000512297.1:p.Ser1112Phe
ENST00000695971.1:c.3488C>T	ENSP00000512298.1:p.Ser1163Phe
ENST00000695972.1:c.*586C>T	ENSP00000512299.1:n.*586C>T
ENST00000695973.1:c.*1873C>T	ENSP00000512300.1:n.*1873C>T
ENST00000695974.1:c.3332C>T	ENSP00000512301.1:p.Ser1111Phe
ENST00000695975.1:c.*1636C>T	ENSP00000512302.1:n.*1636C>T
ENST00000695976.1:c.3320C>T	ENSP00000512303.1:p.Ser1107Phe
ENST00000695981.1:c.3509C>T	ENSP00000512306.1:p.Ser1170Phe
ENST00000695984.1:c.1517C>T	ENSP00000512309.1:p.Ser506Phe
ENST00000695986.1:c.*3160C>T	ENSP00000512311.1:n.*3160C>T
ENST00000695990.1:n.543C>T
ENST00000696026.1:c.*1791C>T	ENSP00000512335.1:n.*1791C>T
ENST00000696027.1:c.3503C>T	ENSP00000512336.1:p.Ser1168Phe
ENST00000696028.1:c.3437C>T	ENSP00000512337.1:p.Ser1146Phe
ENST00000696029.1:c.3503C>T	ENSP00000512338.1:p.Ser1168Phe
ENST00000696031.1:c.*3027C>T	ENSP00000512340.1:n.*3027C>T
ENST00000696032.1:c.3509C>T	ENSP00000512341.1:p.Ser1170Phe
ENST00000696033.1:c.1160-32671C>T	ENSP00000512342.1:n.1160-32671C>T
ENST00000367429.9:c.3509C>T MANE Select	ENSP00000356399.4:p.Ser1170Phe
ENST00000367429.8:c.3509C>T	ENSP00000356399.4:p.Ser1170Phe
ENST00000466229.5:n.6607C>T
NM_000186.3:c.3509C>T , LRG_47t1:c.3509C>T	NP_000177.2:p.Ser1170Phe
XR_001737134.2:n.3695C>T
NM_000186.4:c.3509C>T MANE Select	NP_000177.2:p.Ser1170Phe