Canonical Allele Identifier: CA370916405
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1455664527
gnomAD v2: 8-30924687-A-G
gnomAD v4: 8-31067171-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067171A>G , CM000670.2:g.31067171A>G GRCh38
NC_000008.10:g.30924687A>G , CM000670.1:g.30924687A>G GRCh37
NC_000008.9:g.31044229A>G NCBI36
NG_008870.1:g.38910A>G , LRG_524:g.38910A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.643A>G MANE Select ENSP00000298139.5:p.Thr215Ala
ENST00000650667.1:c.*257A>G ENSP00000498593.1:n.*257A>G
ENST00000298139.5:c.643A>G ENSP00000298139.5:p.Thr215Ala
NM_000553.4:c.643A>G , LRG_524t1:c.643A>G NP_000544.2:p.Thr215Ala
XM_011544639.1:c.643A>G XP_011542941.1:p.Thr215Ala
XR_949470.1:n.916A>G
XR_949471.1:n.916A>G
XR_949472.1:n.916A>G
NM_000553.5:c.643A>G NP_000544.2:p.Thr215Ala
XM_011544639.3:c.643A>G XP_011542941.1:p.Thr215Ala
XM_024447265.1:c.433A>G XP_024303033.1:p.Thr145Ala
XR_949470.3:n.944A>G
XR_949471.3:n.944A>G
XR_949472.3:n.944A>G
NM_000553.6:c.643A>G MANE Select NP_000544.2:p.Thr215Ala