Canonical Allele Identifier: CA4705044

Gene: WRN

Linked Data

• dbSNP Id: rs746379869
• ExAC: 8:31004547 T / A
• gnomAD v2: 8-31004547-T-A
• gnomAD v4: 8-31147031-T-A
• MyVariant Identifiers: chr8:g.31004547T>A (hg19) ; chr8:g.31147031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147031T>A , CM000670.2:g.31147031T>A	GRCh38
NC_000008.10:g.31004547T>A , CM000670.1:g.31004547T>A	GRCh37
NC_000008.9:g.31124089T>A	NCBI36
NG_008870.1:g.118770T>A , LRG_524:g.118770T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-22T>A MANE Select	ENSP00000298139.5:n.3384-22T>A
ENST00000650667.1:c.*2998-22T>A	ENSP00000498593.1:n.*2998-22T>A
ENST00000298139.5:c.3384-22T>A	ENSP00000298139.5:n.3384-22T>A
ENST00000521620.5:n.2017-22T>A
NM_000553.4:c.3384-22T>A , LRG_524t1:c.3384-22T>A	NP_000544.2:n.3384-22T>A
XM_011544639.1:c.3303-22T>A	XP_011542941.1:n.3303-22T>A
XM_011544640.1:c.1785-22T>A	XP_011542942.1:n.1785-22T>A
XR_949470.1:n.3657-22T>A
XR_949471.1:n.3657-22T>A
XR_949472.1:n.3657-22T>A
XR_949643.1:n.614+1477A>T
NM_000553.5:c.3384-22T>A	NP_000544.2:n.3384-22T>A
XM_011544639.3:c.3303-22T>A	XP_011542941.1:n.3303-22T>A
XM_024447265.1:c.3174-22T>A	XP_024303033.1:n.3174-22T>A
XR_949470.3:n.3685-22T>A
XR_949471.3:n.3685-22T>A
XR_949472.3:n.3685-22T>A
NM_000553.6:c.3384-22T>A MANE Select	NP_000544.2:n.3384-22T>A