Canonical Allele Identifier: CA174889556

Gene: WRN

Linked Data

• dbSNP Id: rs868130671
• MyVariant Identifiers: chr8:g.31030588C>A (hg19) ; chr8:g.31173072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173072C>A , CM000670.2:g.31173072C>A	GRCh38
NC_000008.10:g.31030588C>A , CM000670.1:g.31030588C>A	GRCh37
NC_000008.9:g.31150130C>A	NCBI36
NG_008870.1:g.144811C>A , LRG_524:g.144811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4269C>A MANE Select	ENSP00000298139.5:p.Asp1423Glu
ENST00000650667.1:c.*3883C>A	ENSP00000498593.1:n.*3883C>A
ENST00000651946.1:n.493C>A
ENST00000298139.5:c.4269C>A	ENSP00000298139.5:p.Asp1423Glu
ENST00000521620.5:n.2902C>A
NM_000553.4:c.4269C>A , LRG_524t1:c.4269C>A	NP_000544.2:p.Asp1423Glu
XM_011544639.1:c.4188C>A	XP_011542941.1:p.Asp1396Glu
XM_011544640.1:c.2670C>A	XP_011542942.1:p.Asp890Glu
XR_949643.1:n.88-1754G>T
XR_949644.1:n.88-1754G>T
XR_949645.1:n.88-1754G>T
XR_949646.1:n.88-1754G>T
XR_949647.1:n.701-1754G>T
XR_949648.1:n.603-1754G>T
NM_000553.5:c.4269C>A	NP_000544.2:p.Asp1423Glu
XM_011544639.3:c.4188C>A	XP_011542941.1:p.Asp1396Glu
XM_024447265.1:c.4059C>A	XP_024303033.1:p.Asp1353Glu
NM_000553.6:c.4269C>A MANE Select	NP_000544.2:p.Asp1423Glu