Canonical Allele Identifier: CA370911633

Gene: WRN

Linked Data

• dbSNP Id: rs2130530157
• MyVariant Identifiers: chr8:g.31030541C>T (hg19) ; chr8:g.31173025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173025C>T , CM000670.2:g.31173025C>T	GRCh38
NC_000008.10:g.31030541C>T , CM000670.1:g.31030541C>T	GRCh37
NC_000008.9:g.31150083C>T	NCBI36
NG_008870.1:g.144764C>T , LRG_524:g.144764C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4222C>T MANE Select	ENSP00000298139.5:p.Pro1408Ser
ENST00000650667.1:c.*3836C>T	ENSP00000498593.1:n.*3836C>T
ENST00000651946.1:n.446C>T
ENST00000298139.5:c.4222C>T	ENSP00000298139.5:p.Pro1408Ser
ENST00000521620.5:n.2855C>T
NM_000553.4:c.4222C>T , LRG_524t1:c.4222C>T	NP_000544.2:p.Pro1408Ser
XM_011544639.1:c.4141C>T	XP_011542941.1:p.Pro1381Ser
XM_011544640.1:c.2623C>T	XP_011542942.1:p.Pro875Ser
XR_949643.1:n.88-1707G>A
XR_949644.1:n.88-1707G>A
XR_949645.1:n.88-1707G>A
XR_949646.1:n.88-1707G>A
XR_949647.1:n.701-1707G>A
XR_949648.1:n.603-1707G>A
NM_000553.5:c.4222C>T	NP_000544.2:p.Pro1408Ser
XM_011544639.3:c.4141C>T	XP_011542941.1:p.Pro1381Ser
XM_024447265.1:c.4012C>T	XP_024303033.1:p.Pro1338Ser
NM_000553.6:c.4222C>T MANE Select	NP_000544.2:p.Pro1408Ser