Canonical Allele Identifier: CA422802664

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964881C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995751C>A , CM000663.2:g.196995751C>A	GRCh38
NC_000001.10:g.196964881C>A , CM000663.1:g.196964881C>A	GRCh37
NC_000001.9:g.195231504C>A	NCBI36
NG_016365.1:g.23215C>A , LRG_227:g.23215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.387C>A	ENSP00000514393.1:p.Leu129=
ENST00000699467.1:n.711C>A
ENST00000699468.1:c.-24-363C>A	ENSP00000514394.1:n.-24-363C>A
ENST00000256785.5:c.642C>A MANE Select	ENSP00000256785.4:p.Leu214=
ENST00000256785.4:c.642C>A	ENSP00000256785.4:p.Leu214=
NM_030787.3:c.642C>A , LRG_227t1:c.642C>A	NP_110414.1:p.Leu214=
XM_011510020.1:c.651C>A	XP_011508322.1:p.Leu217=
XM_011510020.2:c.651C>A	XP_011508322.1:p.Leu217=
NM_030787.4:c.642C>A MANE Select	NP_110414.1:p.Leu214=