Canonical Allele Identifier: CA370911610

Gene: WRN

Linked Data

• gnomAD v4: 8-31173019-C-G
• MyVariant Identifiers: chr8:g.31030535C>G (hg19) ; chr8:g.31173019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173019C>G , CM000670.2:g.31173019C>G	GRCh38
NC_000008.10:g.31030535C>G , CM000670.1:g.31030535C>G	GRCh37
NC_000008.9:g.31150077C>G	NCBI36
NG_008870.1:g.144758C>G , LRG_524:g.144758C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4216C>G MANE Select	ENSP00000298139.5:p.Arg1406Gly
ENST00000650667.1:c.*3830C>G	ENSP00000498593.1:n.*3830C>G
ENST00000651946.1:n.440C>G
ENST00000298139.5:c.4216C>G	ENSP00000298139.5:p.Arg1406Gly
ENST00000521620.5:n.2849C>G
NM_000553.4:c.4216C>G , LRG_524t1:c.4216C>G	NP_000544.2:p.Arg1406Gly
XM_011544639.1:c.4135C>G	XP_011542941.1:p.Arg1379Gly
XM_011544640.1:c.2617C>G	XP_011542942.1:p.Arg873Gly
XR_949643.1:n.88-1701G>C
XR_949644.1:n.88-1701G>C
XR_949645.1:n.88-1701G>C
XR_949646.1:n.88-1701G>C
XR_949647.1:n.701-1701G>C
XR_949648.1:n.603-1701G>C
NM_000553.5:c.4216C>G	NP_000544.2:p.Arg1406Gly
XM_011544639.3:c.4135C>G	XP_011542941.1:p.Arg1379Gly
XM_024447265.1:c.4006C>G	XP_024303033.1:p.Arg1336Gly
NM_000553.6:c.4216C>G MANE Select	NP_000544.2:p.Arg1406Gly