Canonical Allele Identifier: CA580995520

Gene: WRN

Linked Data

• dbSNP Id: rs1297640548
• gnomAD v2: 8-30925858-A-C
• MyVariant Identifiers: chr8:g.30925858A>C (hg19) ; chr8:g.31068342A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068342A>C , CM000670.2:g.31068342A>C	GRCh38
NC_000008.10:g.30925858A>C , CM000670.1:g.30925858A>C	GRCh37
NC_000008.9:g.31045400A>C	NCBI36
NG_008870.1:g.40081A>C , LRG_524:g.40081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.724+15A>C MANE Select	ENSP00000298139.5:n.724+15A>C
ENST00000650667.1:c.*338+15A>C	ENSP00000498593.1:n.*338+15A>C
ENST00000651642.1:c.19+15A>C	ENSP00000498779.1:n.19+15A>C
ENST00000298139.5:c.724+15A>C	ENSP00000298139.5:n.724+15A>C
NM_000553.4:c.724+15A>C , LRG_524t1:c.724+15A>C	NP_000544.2:n.724+15A>C
XM_011544639.1:c.724+15A>C	XP_011542941.1:n.724+15A>C
XR_949470.1:n.997+15A>C
XR_949471.1:n.997+15A>C
XR_949472.1:n.997+15A>C
NM_000553.5:c.724+15A>C	NP_000544.2:n.724+15A>C
XM_011544639.3:c.724+15A>C	XP_011542941.1:n.724+15A>C
XM_024447265.1:c.514+15A>C	XP_024303033.1:n.514+15A>C
XR_949470.3:n.1025+15A>C
XR_949471.3:n.1025+15A>C
XR_949472.3:n.1025+15A>C
NM_000553.6:c.724+15A>C MANE Select	NP_000544.2:n.724+15A>C