Canonical Allele Identifier: CA174889581

Gene: WRN

Linked Data

• dbSNP Id: rs576895598
• gnomAD v4: 8-31173108-C-T
• MyVariant Identifiers: chr8:g.31030624C>T (hg19) ; chr8:g.31173108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173108C>T , CM000670.2:g.31173108C>T	GRCh38
NC_000008.10:g.31030624C>T , CM000670.1:g.31030624C>T	GRCh37
NC_000008.9:g.31150166C>T	NCBI36
NG_008870.1:g.144847C>T , LRG_524:g.144847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.*6C>T MANE Select	ENSP00000298139.5:n.*6C>T
ENST00000650667.1:c.*3919C>T	ENSP00000498593.1:n.*3919C>T
ENST00000651946.1:n.529C>T
ENST00000298139.5:c.*6C>T	ENSP00000298139.5:n.*6C>T
ENST00000521620.5:n.2938C>T
NM_000553.4:c.*6C>T , LRG_524t1:c.*6C>T	NP_000544.2:n.*6C>T
XM_011544639.1:c.*6C>T	XP_011542941.1:n.*6C>T
XM_011544640.1:c.*6C>T	XP_011542942.1:n.*6C>T
XR_949643.1:n.88-1790G>A
XR_949644.1:n.88-1790G>A
XR_949645.1:n.88-1790G>A
XR_949646.1:n.88-1790G>A
XR_949647.1:n.701-1790G>A
XR_949648.1:n.603-1790G>A
NM_000553.5:c.*6C>T	NP_000544.2:n.*6C>T
XM_011544639.3:c.*6C>T	XP_011542941.1:n.*6C>T
XM_024447265.1:c.*6C>T	XP_024303033.1:n.*6C>T
NM_000553.6:c.*6C>T MANE Select	NP_000544.2:n.*6C>T