Canonical Allele Identifier: CA422802692

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964905A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995775A>C , CM000663.2:g.196995775A>C	GRCh38
NC_000001.10:g.196964905A>C , CM000663.1:g.196964905A>C	GRCh37
NC_000001.9:g.195231528A>C	NCBI36
NG_016365.1:g.23239A>C , LRG_227:g.23239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.411A>C	ENSP00000514393.1:p.Ile137=
ENST00000699467.1:n.735A>C
ENST00000699468.1:c.-24-339A>C	ENSP00000514394.1:n.-24-339A>C
ENST00000256785.5:c.666A>C MANE Select	ENSP00000256785.4:p.Ile222=
ENST00000256785.4:c.666A>C	ENSP00000256785.4:p.Ile222=
NM_030787.3:c.666A>C , LRG_227t1:c.666A>C	NP_110414.1:p.Ile222=
XM_011510020.1:c.675A>C	XP_011508322.1:p.Ile225=
XM_011510020.2:c.675A>C	XP_011508322.1:p.Ile225=
NM_030787.4:c.666A>C MANE Select	NP_110414.1:p.Ile222=