Canonical Allele Identifier: CA156009

Gene: WRN

Linked Data

• ClinVar Variation Id: 130754
• ClinVar RCV Id: RCV000118872 ; RCV000294562 ; RCV000836718 ; RCV003315687
• dbSNP Id: rs3024239
• ExAC: 8:30999122 C / T
• gnomAD v2: 8-30999122-C-T
• gnomAD v3: 8-31141606-C-T
• gnomAD v4: 8-31141606-C-T
• MyVariant Identifiers: chr8:g.30999122C>T (hg19) ; chr8:g.31141606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141606C>T , CM000670.2:g.31141606C>T	GRCh38
NC_000008.10:g.30999122C>T , CM000670.1:g.30999122C>T	GRCh37
NC_000008.9:g.31118664C>T	NCBI36
NG_008870.1:g.113345C>T , LRG_524:g.113345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3138+6C>T MANE Select	ENSP00000298139.5:n.3138+6C>T
ENST00000650667.1:c.*2752+6C>T	ENSP00000498593.1:n.*2752+6C>T
ENST00000298139.5:c.3138+6C>T	ENSP00000298139.5:n.3138+6C>T
ENST00000521620.5:n.1771+6C>T
NM_000553.4:c.3138+6C>T , LRG_524t1:c.3138+6C>T	NP_000544.2:n.3138+6C>T
XM_011544639.1:c.3057+6C>T	XP_011542941.1:n.3057+6C>T
XM_011544640.1:c.1539+6C>T	XP_011542942.1:n.1539+6C>T
XR_949470.1:n.3411+6C>T
XR_949471.1:n.3411+6C>T
XR_949472.1:n.3411+6C>T
NM_000553.5:c.3138+6C>T	NP_000544.2:n.3138+6C>T
XM_011544639.3:c.3057+6C>T	XP_011542941.1:n.3057+6C>T
XM_024447265.1:c.2928+6C>T	XP_024303033.1:n.2928+6C>T
XR_949470.3:n.3439+6C>T
XR_949471.3:n.3439+6C>T
XR_949472.3:n.3439+6C>T
NM_000553.6:c.3138+6C>T MANE Select	NP_000544.2:n.3138+6C>T