Canonical Allele Identifier: CA344004706

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964912G>A (hg19) ; chr1:g.196995782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995782G>A , CM000663.2:g.196995782G>A	GRCh38
NC_000001.10:g.196964912G>A , CM000663.1:g.196964912G>A	GRCh37
NC_000001.9:g.195231535G>A	NCBI36
NG_016365.1:g.23246G>A , LRG_227:g.23246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.418G>A	ENSP00000514393.1:p.Glu140Lys
ENST00000699467.1:n.742G>A
ENST00000699468.1:c.-24-332G>A	ENSP00000514394.1:n.-24-332G>A
ENST00000256785.5:c.673G>A MANE Select	ENSP00000256785.4:p.Glu225Lys
ENST00000256785.4:c.673G>A	ENSP00000256785.4:p.Glu225Lys
NM_030787.3:c.673G>A , LRG_227t1:c.673G>A	NP_110414.1:p.Glu225Lys
XM_011510020.1:c.682G>A	XP_011508322.1:p.Glu228Lys
XM_011510020.2:c.682G>A	XP_011508322.1:p.Glu228Lys
NM_030787.4:c.673G>A MANE Select	NP_110414.1:p.Glu225Lys