Canonical Allele Identifier: CA460223915
Gene: WRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.31004572C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147056C>A , CM000670.2:g.31147056C>A GRCh38
NC_000008.10:g.31004572C>A , CM000670.1:g.31004572C>A GRCh37
NC_000008.9:g.31124114C>A NCBI36
NG_008870.1:g.118795C>A , LRG_524:g.118795C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3387C>A MANE Select ENSP00000298139.5:p.Ile1129=
ENST00000650667.1:c.*3001C>A ENSP00000498593.1:n.*3001C>A
ENST00000298139.5:c.3387C>A ENSP00000298139.5:p.Ile1129=
ENST00000521620.5:n.2020C>A
NM_000553.4:c.3387C>A , LRG_524t1:c.3387C>A NP_000544.2:p.Ile1129=
XM_011544639.1:c.3306C>A XP_011542941.1:p.Ile1102=
XM_011544640.1:c.1788C>A XP_011542942.1:p.Ile596=
XR_949470.1:n.3660C>A
XR_949471.1:n.3660C>A
XR_949472.1:n.3660C>A
XR_949643.1:n.614+1452G>T
NM_000553.5:c.3387C>A NP_000544.2:p.Ile1129=
XM_011544639.3:c.3306C>A XP_011542941.1:p.Ile1102=
XM_024447265.1:c.3177C>A XP_024303033.1:p.Ile1059=
XR_949470.3:n.3688C>A
XR_949471.3:n.3688C>A
XR_949472.3:n.3688C>A
NM_000553.6:c.3387C>A MANE Select NP_000544.2:p.Ile1129=