Canonical Allele Identifier: CA370922797

Gene: WRN

Linked Data

• ClinVar Variation Id: 946047
• ClinVar RCV Id: RCV001216828
• dbSNP Id: rs1802642530
• MyVariant Identifiers: chr8:g.30999198G>T (hg19) ; chr8:g.31141682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141682G>T , CM000670.2:g.31141682G>T	GRCh38
NC_000008.10:g.30999198G>T , CM000670.1:g.30999198G>T	GRCh37
NC_000008.9:g.31118740G>T	NCBI36
NG_008870.1:g.113421G>T , LRG_524:g.113421G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3140G>T MANE Select	ENSP00000298139.5:p.Gly1047Val
ENST00000650667.1:c.*2754G>T	ENSP00000498593.1:n.*2754G>T
ENST00000298139.5:c.3140G>T	ENSP00000298139.5:p.Gly1047Val
ENST00000521620.5:n.1773G>T
NM_000553.4:c.3140G>T , LRG_524t1:c.3140G>T	NP_000544.2:p.Gly1047Val
XM_011544639.1:c.3059G>T	XP_011542941.1:p.Gly1020Val
XM_011544640.1:c.1541G>T	XP_011542942.1:p.Gly514Val
XR_949470.1:n.3413G>T
XR_949471.1:n.3413G>T
XR_949472.1:n.3413G>T
NM_000553.5:c.3140G>T	NP_000544.2:p.Gly1047Val
XM_011544639.3:c.3059G>T	XP_011542941.1:p.Gly1020Val
XM_024447265.1:c.2930G>T	XP_024303033.1:p.Gly977Val
XR_949470.3:n.3441G>T
XR_949471.3:n.3441G>T
XR_949472.3:n.3441G>T
NM_000553.6:c.3140G>T MANE Select	NP_000544.2:p.Gly1047Val