Canonical Allele Identifier: CA581428597
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1358570985
gnomAD v2: 8-31004551-T-G
gnomAD v4: 8-31147035-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147035T>G , CM000670.2:g.31147035T>G GRCh38
NC_000008.10:g.31004551T>G , CM000670.1:g.31004551T>G GRCh37
NC_000008.9:g.31124093T>G NCBI36
NG_008870.1:g.118774T>G , LRG_524:g.118774T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3384-18T>G MANE Select ENSP00000298139.5:n.3384-18T>G
ENST00000650667.1:c.*2998-18T>G ENSP00000498593.1:n.*2998-18T>G
ENST00000298139.5:c.3384-18T>G ENSP00000298139.5:n.3384-18T>G
ENST00000521620.5:n.2017-18T>G
NM_000553.4:c.3384-18T>G , LRG_524t1:c.3384-18T>G NP_000544.2:n.3384-18T>G
XM_011544639.1:c.3303-18T>G XP_011542941.1:n.3303-18T>G
XM_011544640.1:c.1785-18T>G XP_011542942.1:n.1785-18T>G
XR_949470.1:n.3657-18T>G
XR_949471.1:n.3657-18T>G
XR_949472.1:n.3657-18T>G
XR_949643.1:n.614+1473A>C
NM_000553.5:c.3384-18T>G NP_000544.2:n.3384-18T>G
XM_011544639.3:c.3303-18T>G XP_011542941.1:n.3303-18T>G
XM_024447265.1:c.3174-18T>G XP_024303033.1:n.3174-18T>G
XR_949470.3:n.3685-18T>G
XR_949471.3:n.3685-18T>G
XR_949472.3:n.3685-18T>G
NM_000553.6:c.3384-18T>G MANE Select NP_000544.2:n.3384-18T>G