Canonical Allele Identifier: CA1217885034

Gene: CFHR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995748A= , CM000663.2:g.196995748A=	GRCh38
NC_000001.10:g.196964878A= , CM000663.1:g.196964878A=	GRCh37
NC_000001.9:g.195231501A=	NCBI36
NG_016365.1:g.23212A= , LRG_227:g.23212A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.384A=	ENSP00000514393.1:p.Gln128=
ENST00000699467.1:n.708A=
ENST00000699468.1:c.-24-366A=	ENSP00000514394.1:n.-24-366A=
ENST00000256785.5:c.639A= MANE Select	ENSP00000256785.4:p.Gln213=
ENST00000256785.4:c.639A=	ENSP00000256785.4:p.Gln213=
NM_030787.3:c.639A= , LRG_227t1:c.639A=	NP_110414.1:p.Gln213=
XM_011510020.1:c.648A=	XP_011508322.1:p.Gln216=
XM_011510020.2:c.648A=	XP_011508322.1:p.Gln216=
NM_030787.4:c.639A= MANE Select	NP_110414.1:p.Gln213=