Canonical Allele Identifier: CA370911643

Gene: WRN

Linked Data

• gnomAD v4: 8-31173028-G-C
• MyVariant Identifiers: chr8:g.31030544G>C (hg19) ; chr8:g.31173028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173028G>C , CM000670.2:g.31173028G>C	GRCh38
NC_000008.10:g.31030544G>C , CM000670.1:g.31030544G>C	GRCh37
NC_000008.9:g.31150086G>C	NCBI36
NG_008870.1:g.144767G>C , LRG_524:g.144767G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4225G>C MANE Select	ENSP00000298139.5:p.Val1409Leu
ENST00000650667.1:c.*3839G>C	ENSP00000498593.1:n.*3839G>C
ENST00000651946.1:n.449G>C
ENST00000298139.5:c.4225G>C	ENSP00000298139.5:p.Val1409Leu
ENST00000521620.5:n.2858G>C
NM_000553.4:c.4225G>C , LRG_524t1:c.4225G>C	NP_000544.2:p.Val1409Leu
XM_011544639.1:c.4144G>C	XP_011542941.1:p.Val1382Leu
XM_011544640.1:c.2626G>C	XP_011542942.1:p.Val876Leu
XR_949643.1:n.88-1710C>G
XR_949644.1:n.88-1710C>G
XR_949645.1:n.88-1710C>G
XR_949646.1:n.88-1710C>G
XR_949647.1:n.701-1710C>G
XR_949648.1:n.603-1710C>G
NM_000553.5:c.4225G>C	NP_000544.2:p.Val1409Leu
XM_011544639.3:c.4144G>C	XP_011542941.1:p.Val1382Leu
XM_024447265.1:c.4015G>C	XP_024303033.1:p.Val1339Leu
NM_000553.6:c.4225G>C MANE Select	NP_000544.2:p.Val1409Leu