Canonical Allele Identifier: CA460488423

Gene: WRN

Linked Data

• ClinVar Variation Id: 2846495
• ClinVar RCV Id: RCV003614650
• gnomAD v4: 8-31141582-T-C
• COSMIC: COSM3648353
• MyVariant Identifiers: chr8:g.30999098T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141582T>C , CM000670.2:g.31141582T>C	GRCh38
NC_000008.10:g.30999098T>C , CM000670.1:g.30999098T>C	GRCh37
NC_000008.9:g.31118640T>C	NCBI36
NG_008870.1:g.113321T>C , LRG_524:g.113321T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3120T>C MANE Select	ENSP00000298139.5:p.Ile1040=
ENST00000650667.1:c.*2734T>C	ENSP00000498593.1:n.*2734T>C
ENST00000298139.5:c.3120T>C	ENSP00000298139.5:p.Ile1040=
ENST00000521620.5:n.1753T>C
NM_000553.4:c.3120T>C , LRG_524t1:c.3120T>C	NP_000544.2:p.Ile1040=
XM_011544639.1:c.3039T>C	XP_011542941.1:p.Ile1013=
XM_011544640.1:c.1521T>C	XP_011542942.1:p.Ile507=
XR_949470.1:n.3393T>C
XR_949471.1:n.3393T>C
XR_949472.1:n.3393T>C
NM_000553.5:c.3120T>C	NP_000544.2:p.Ile1040=
XM_011544639.3:c.3039T>C	XP_011542941.1:p.Ile1013=
XM_024447265.1:c.2910T>C	XP_024303033.1:p.Ile970=
XR_949470.3:n.3421T>C
XR_949471.3:n.3421T>C
XR_949472.3:n.3421T>C
NM_000553.6:c.3120T>C MANE Select	NP_000544.2:p.Ile1040=