Canonical Allele Identifier: CA581428598

Gene: WRN

Linked Data

• dbSNP Id: rs1320376503
• gnomAD v2: 8-31004556-T-C
• gnomAD v4: 8-31147040-T-C
• MyVariant Identifiers: chr8:g.31004556T>C (hg19) ; chr8:g.31147040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147040T>C , CM000670.2:g.31147040T>C	GRCh38
NC_000008.10:g.31004556T>C , CM000670.1:g.31004556T>C	GRCh37
NC_000008.9:g.31124098T>C	NCBI36
NG_008870.1:g.118779T>C , LRG_524:g.118779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-13T>C MANE Select	ENSP00000298139.5:n.3384-13T>C
ENST00000650667.1:c.*2998-13T>C	ENSP00000498593.1:n.*2998-13T>C
ENST00000298139.5:c.3384-13T>C	ENSP00000298139.5:n.3384-13T>C
ENST00000521620.5:n.2017-13T>C
NM_000553.4:c.3384-13T>C , LRG_524t1:c.3384-13T>C	NP_000544.2:n.3384-13T>C
XM_011544639.1:c.3303-13T>C	XP_011542941.1:n.3303-13T>C
XM_011544640.1:c.1785-13T>C	XP_011542942.1:n.1785-13T>C
XR_949470.1:n.3657-13T>C
XR_949471.1:n.3657-13T>C
XR_949472.1:n.3657-13T>C
XR_949643.1:n.614+1468A>G
NM_000553.5:c.3384-13T>C	NP_000544.2:n.3384-13T>C
XM_011544639.3:c.3303-13T>C	XP_011542941.1:n.3303-13T>C
XM_024447265.1:c.3174-13T>C	XP_024303033.1:n.3174-13T>C
XR_949470.3:n.3685-13T>C
XR_949471.3:n.3685-13T>C
XR_949472.3:n.3685-13T>C
NM_000553.6:c.3384-13T>C MANE Select	NP_000544.2:n.3384-13T>C