Canonical Allele Identifier: CA460228405
Gene: WRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.31030564T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31173048T>C , CM000670.2:g.31173048T>C GRCh38
NC_000008.10:g.31030564T>C , CM000670.1:g.31030564T>C GRCh37
NC_000008.9:g.31150106T>C NCBI36
NG_008870.1:g.144787T>C , LRG_524:g.144787T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4245T>C MANE Select ENSP00000298139.5:p.Ser1415=
ENST00000650667.1:c.*3859T>C ENSP00000498593.1:n.*3859T>C
ENST00000651946.1:n.469T>C
ENST00000298139.5:c.4245T>C ENSP00000298139.5:p.Ser1415=
ENST00000521620.5:n.2878T>C
NM_000553.4:c.4245T>C , LRG_524t1:c.4245T>C NP_000544.2:p.Ser1415=
XM_011544639.1:c.4164T>C XP_011542941.1:p.Ser1388=
XM_011544640.1:c.2646T>C XP_011542942.1:p.Ser882=
XR_949643.1:n.88-1730A>G
XR_949644.1:n.88-1730A>G
XR_949645.1:n.88-1730A>G
XR_949646.1:n.88-1730A>G
XR_949647.1:n.701-1730A>G
XR_949648.1:n.603-1730A>G
NM_000553.5:c.4245T>C NP_000544.2:p.Ser1415=
XM_011544639.3:c.4164T>C XP_011542941.1:p.Ser1388=
XM_024447265.1:c.4035T>C XP_024303033.1:p.Ser1345=
NM_000553.6:c.4245T>C MANE Select NP_000544.2:p.Ser1415=