Canonical Allele Identifier: CA370917206

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30925841A>C (hg19) ; chr8:g.31068325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068325A>C , CM000670.2:g.31068325A>C	GRCh38
NC_000008.10:g.30925841A>C , CM000670.1:g.30925841A>C	GRCh37
NC_000008.9:g.31045383A>C	NCBI36
NG_008870.1:g.40064A>C , LRG_524:g.40064A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.722A>C MANE Select	ENSP00000298139.5:p.Lys241Thr
ENST00000650667.1:c.*336A>C	ENSP00000498593.1:n.*336A>C
ENST00000651642.1:c.17A>C	ENSP00000498779.1:p.Lys6Thr
ENST00000298139.5:c.722A>C	ENSP00000298139.5:p.Lys241Thr
NM_000553.4:c.722A>C , LRG_524t1:c.722A>C	NP_000544.2:p.Lys241Thr
XM_011544639.1:c.722A>C	XP_011542941.1:p.Lys241Thr
XR_949470.1:n.995A>C
XR_949471.1:n.995A>C
XR_949472.1:n.995A>C
NM_000553.5:c.722A>C	NP_000544.2:p.Lys241Thr
XM_011544639.3:c.722A>C	XP_011542941.1:p.Lys241Thr
XM_024447265.1:c.512A>C	XP_024303033.1:p.Lys171Thr
XR_949470.3:n.1023A>C
XR_949471.3:n.1023A>C
XR_949472.3:n.1023A>C
NM_000553.6:c.722A>C MANE Select	NP_000544.2:p.Lys241Thr