Canonical Allele Identifier: CA370915840

Gene: WRN

Linked Data

• gnomAD v4: 8-31067041-C-A
• MyVariant Identifiers: chr8:g.30924557C>A (hg19) ; chr8:g.31067041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067041C>A , CM000670.2:g.31067041C>A	GRCh38
NC_000008.10:g.30924557C>A , CM000670.1:g.30924557C>A	GRCh37
NC_000008.9:g.31044099C>A	NCBI36
NG_008870.1:g.38780C>A , LRG_524:g.38780C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.513C>A MANE Select	ENSP00000298139.5:p.Cys171Ter
ENST00000650667.1:c.*127C>A	ENSP00000498593.1:n.*127C>A
ENST00000298139.5:c.513C>A	ENSP00000298139.5:p.Cys171Ter
NM_000553.4:c.513C>A , LRG_524t1:c.513C>A	NP_000544.2:p.Cys171Ter
XM_011544639.1:c.513C>A	XP_011542941.1:p.Cys171Ter
XR_949470.1:n.786C>A
XR_949471.1:n.786C>A
XR_949472.1:n.786C>A
NM_000553.5:c.513C>A	NP_000544.2:p.Cys171Ter
XM_011544639.3:c.513C>A	XP_011542941.1:p.Cys171Ter
XM_024447265.1:c.303C>A	XP_024303033.1:p.Cys101Ter
XR_949470.3:n.814C>A
XR_949471.3:n.814C>A
XR_949472.3:n.814C>A
NM_000553.6:c.513C>A MANE Select	NP_000544.2:p.Cys171Ter