Canonical Allele Identifier: CA370921326
Community Standard Title: NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31081246C>T , CM000670.2:g.31081246C>T GRCh38
NC_000008.10:g.30938762C>T , CM000670.1:g.30938762C>T GRCh37
NC_000008.9:g.31058304C>T NCBI36
NG_008870.1:g.52985C>T , LRG_524:g.52985C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1219C>T MANE Select NP_000544.2:p.Gln407Ter
ENST00000298139.7:c.1219C>T MANE Select ENSP00000298139.5:p.Gln407Ter
NM_000553.4:c.1219C>T , LRG_524t1:c.1219C>T NP_000544.2:p.Gln407Ter
NM_000553.5:c.1219C>T NP_000544.2:p.Gln407Ter
ENST00000298139.5:c.1219C>T ENSP00000298139.5:p.Gln407Ter
ENST00000650667.1:c.*833C>T ENSP00000498593.1:n.*833C>T
ENST00000651642.1:c.514C>T ENSP00000498779.1:p.Gln172Ter
XM_011544639.1:c.1219C>T XP_011542941.1:p.Gln407Ter
XM_011544639.3:c.1219C>T XP_011542941.1:p.Gln407Ter
XM_024447265.1:c.1009C>T XP_024303033.1:p.Gln337Ter
XR_949470.1:n.1492C>T
XR_949470.3:n.1520C>T
XR_949471.1:n.1492C>T
XR_949471.3:n.1520C>T
XR_949472.1:n.1492C>T
XR_949472.3:n.1520C>T