Canonical Allele Identifier: CA344004709

Gene: CFHR5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.418G>T	ENSP00000514393.1:p.Glu140Ter
ENST00000699467.1:n.742G>T
ENST00000699468.1:c.-24-332G>T	ENSP00000514394.1:n.-24-332G>T
ENST00000256785.5:c.673G>T MANE Select	ENSP00000256785.4:p.Glu225Ter
ENST00000256785.4:c.673G>T	ENSP00000256785.4:p.Glu225Ter
NM_030787.3:c.673G>T , LRG_227t1:c.673G>T	NP_110414.1:p.Glu225Ter
XM_011510020.1:c.682G>T	XP_011508322.1:p.Glu228Ter
XM_011510020.2:c.682G>T	XP_011508322.1:p.Glu228Ter
NM_030787.4:c.673G>T MANE Select	NP_110414.1:p.Glu225Ter