Canonical Allele Identifier: CA370917217

Gene: WRN

Linked Data

• ClinVar Variation Id: 523380
• ClinVar RCV Id: RCV000626713 ; RCV001197400
• dbSNP Id: rs1339616347
• gnomAD v4: 8-31068328-G-T
• MyVariant Identifiers: chr8:g.30925844G>T (hg19) ; chr8:g.31068328G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068328G>T , CM000670.2:g.31068328G>T	GRCh38
NC_000008.10:g.30925844G>T , CM000670.1:g.30925844G>T	GRCh37
NC_000008.9:g.31045386G>T	NCBI36
NG_008870.1:g.40067G>T , LRG_524:g.40067G>T

Transcript Alleles

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