Canonical Allele Identifier: CA460221884

Gene: WRN

Linked Data

• gnomAD v4: 8-31068263-T-C
• MyVariant Identifiers: chr8:g.30925779T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068263T>C , CM000670.2:g.31068263T>C	GRCh38
NC_000008.10:g.30925779T>C , CM000670.1:g.30925779T>C	GRCh37
NC_000008.9:g.31045321T>C	NCBI36
NG_008870.1:g.40002T>C , LRG_524:g.40002T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.660T>C MANE Select	ENSP00000298139.5:p.Gly220=
ENST00000650667.1:c.*274T>C	ENSP00000498593.1:n.*274T>C
ENST00000298139.5:c.660T>C	ENSP00000298139.5:p.Gly220=
NM_000553.4:c.660T>C , LRG_524t1:c.660T>C	NP_000544.2:p.Gly220=
XM_011544639.1:c.660T>C	XP_011542941.1:p.Gly220=
XR_949470.1:n.933T>C
XR_949471.1:n.933T>C
XR_949472.1:n.933T>C
NM_000553.5:c.660T>C	NP_000544.2:p.Gly220=
XM_011544639.3:c.660T>C	XP_011542941.1:p.Gly220=
XM_024447265.1:c.450T>C	XP_024303033.1:p.Gly150=
XR_949470.3:n.961T>C
XR_949471.3:n.961T>C
XR_949472.3:n.961T>C
NM_000553.6:c.660T>C MANE Select	NP_000544.2:p.Gly220=