Canonical Allele Identifier: CA370916348

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924671G>C (hg19) ; chr8:g.31067155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067155G>C , CM000670.2:g.31067155G>C	GRCh38
NC_000008.10:g.30924671G>C , CM000670.1:g.30924671G>C	GRCh37
NC_000008.9:g.31044213G>C	NCBI36
NG_008870.1:g.38894G>C , LRG_524:g.38894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.627G>C MANE Select	ENSP00000298139.5:p.Gln209His
ENST00000650667.1:c.*241G>C	ENSP00000498593.1:n.*241G>C
ENST00000298139.5:c.627G>C	ENSP00000298139.5:p.Gln209His
NM_000553.4:c.627G>C , LRG_524t1:c.627G>C	NP_000544.2:p.Gln209His
XM_011544639.1:c.627G>C	XP_011542941.1:p.Gln209His
XR_949470.1:n.900G>C
XR_949471.1:n.900G>C
XR_949472.1:n.900G>C
NM_000553.5:c.627G>C	NP_000544.2:p.Gln209His
XM_011544639.3:c.627G>C	XP_011542941.1:p.Gln209His
XM_024447265.1:c.417G>C	XP_024303033.1:p.Gln139His
XR_949470.3:n.928G>C
XR_949471.3:n.928G>C
XR_949472.3:n.928G>C
NM_000553.6:c.627G>C MANE Select	NP_000544.2:p.Gln209His