Canonical Allele Identifier: CA370916430

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924693G>C (hg19) ; chr8:g.31067177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067177G>C , CM000670.2:g.31067177G>C	GRCh38
NC_000008.10:g.30924693G>C , CM000670.1:g.30924693G>C	GRCh37
NC_000008.9:g.31044235G>C	NCBI36
NG_008870.1:g.38916G>C , LRG_524:g.38916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.649G>C MANE Select	ENSP00000298139.5:p.Ala217Pro
ENST00000650667.1:c.*263G>C	ENSP00000498593.1:n.*263G>C
ENST00000298139.5:c.649G>C	ENSP00000298139.5:p.Ala217Pro
NM_000553.4:c.649G>C , LRG_524t1:c.649G>C	NP_000544.2:p.Ala217Pro
XM_011544639.1:c.649G>C	XP_011542941.1:p.Ala217Pro
XR_949470.1:n.922G>C
XR_949471.1:n.922G>C
XR_949472.1:n.922G>C
NM_000553.5:c.649G>C	NP_000544.2:p.Ala217Pro
XM_011544639.3:c.649G>C	XP_011542941.1:p.Ala217Pro
XM_024447265.1:c.439G>C	XP_024303033.1:p.Ala147Pro
XR_949470.3:n.950G>C
XR_949471.3:n.950G>C
XR_949472.3:n.950G>C
NM_000553.6:c.649G>C MANE Select	NP_000544.2:p.Ala217Pro