Canonical Allele Identifier: CA581428530
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1334966654
gnomAD v2: 8-30999125-T-A
gnomAD v4: 8-31141609-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141609T>A , CM000670.2:g.31141609T>A GRCh38
NC_000008.10:g.30999125T>A , CM000670.1:g.30999125T>A GRCh37
NC_000008.9:g.31118667T>A NCBI36
NG_008870.1:g.113348T>A , LRG_524:g.113348T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3138+9T>A MANE Select ENSP00000298139.5:n.3138+9T>A
ENST00000650667.1:c.*2752+9T>A ENSP00000498593.1:n.*2752+9T>A
ENST00000298139.5:c.3138+9T>A ENSP00000298139.5:n.3138+9T>A
ENST00000521620.5:n.1771+9T>A
NM_000553.4:c.3138+9T>A , LRG_524t1:c.3138+9T>A NP_000544.2:n.3138+9T>A
XM_011544639.1:c.3057+9T>A XP_011542941.1:n.3057+9T>A
XM_011544640.1:c.1539+9T>A XP_011542942.1:n.1539+9T>A
XR_949470.1:n.3411+9T>A
XR_949471.1:n.3411+9T>A
XR_949472.1:n.3411+9T>A
NM_000553.5:c.3138+9T>A NP_000544.2:n.3138+9T>A
XM_011544639.3:c.3057+9T>A XP_011542941.1:n.3057+9T>A
XM_024447265.1:c.2928+9T>A XP_024303033.1:n.2928+9T>A
XR_949470.3:n.3439+9T>A
XR_949471.3:n.3439+9T>A
XR_949472.3:n.3439+9T>A
NM_000553.6:c.3138+9T>A MANE Select NP_000544.2:n.3138+9T>A