Canonical Allele Identifier: CA460221730

Gene: WRN

Linked Data

• gnomAD v4: 8-31067152-C-T
• MyVariant Identifiers: chr8:g.30924668C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067152C>T , CM000670.2:g.31067152C>T	GRCh38
NC_000008.10:g.30924668C>T , CM000670.1:g.30924668C>T	GRCh37
NC_000008.9:g.31044210C>T	NCBI36
NG_008870.1:g.38891C>T , LRG_524:g.38891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.624C>T MANE Select	ENSP00000298139.5:p.Asp208=
ENST00000650667.1:c.*238C>T	ENSP00000498593.1:n.*238C>T
ENST00000298139.5:c.624C>T	ENSP00000298139.5:p.Asp208=
NM_000553.4:c.624C>T , LRG_524t1:c.624C>T	NP_000544.2:p.Asp208=
XM_011544639.1:c.624C>T	XP_011542941.1:p.Asp208=
XR_949470.1:n.897C>T
XR_949471.1:n.897C>T
XR_949472.1:n.897C>T
NM_000553.5:c.624C>T	NP_000544.2:p.Asp208=
XM_011544639.3:c.624C>T	XP_011542941.1:p.Asp208=
XM_024447265.1:c.414C>T	XP_024303033.1:p.Asp138=
XR_949470.3:n.925C>T
XR_949471.3:n.925C>T
XR_949472.3:n.925C>T
NM_000553.6:c.624C>T MANE Select	NP_000544.2:p.Asp208=