Canonical Allele Identifier: CA460223913
Gene: WRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.31004569T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147053T>C , CM000670.2:g.31147053T>C GRCh38
NC_000008.10:g.31004569T>C , CM000670.1:g.31004569T>C GRCh37
NC_000008.9:g.31124111T>C NCBI36
NG_008870.1:g.118792T>C , LRG_524:g.118792T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298139.7:c.3384T>C MANE Select ENSP00000298139.5:p.Ser1128=
ENST00000650667.1:c.*2998T>C ENSP00000498593.1:n.*2998T>C
ENST00000298139.5:c.3384T>C ENSP00000298139.5:p.Ser1128=
ENST00000521620.5:n.2017T>C
NM_000553.4:c.3384T>C , LRG_524t1:c.3384T>C NP_000544.2:p.Ser1128=
XM_011544639.1:c.3303T>C XP_011542941.1:p.Ser1101=
XM_011544640.1:c.1785T>C XP_011542942.1:p.Ser595=
XR_949470.1:n.3657T>C
XR_949471.1:n.3657T>C
XR_949472.1:n.3657T>C
XR_949643.1:n.614+1455A>G
NM_000553.5:c.3384T>C NP_000544.2:p.Ser1128=
XM_011544639.3:c.3303T>C XP_011542941.1:p.Ser1101=
XM_024447265.1:c.3174T>C XP_024303033.1:p.Ser1058=
XR_949470.3:n.3685T>C
XR_949471.3:n.3685T>C
XR_949472.3:n.3685T>C
NM_000553.6:c.3384T>C MANE Select NP_000544.2:p.Ser1128=