Canonical Allele Identifier: CA460228426
Gene: WRN HGNC NCBI

Linked Data

gnomAD v4: 8-31173090-T-G
MyVariant Identifiers: chr8:g.31030606T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31173090T>G , CM000670.2:g.31173090T>G GRCh38
NC_000008.10:g.31030606T>G , CM000670.1:g.31030606T>G GRCh37
NC_000008.9:g.31150148T>G NCBI36
NG_008870.1:g.144829T>G , LRG_524:g.144829T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4287T>G MANE Select ENSP00000298139.5:p.Gly1429=
ENST00000650667.1:c.*3901T>G ENSP00000498593.1:n.*3901T>G
ENST00000651946.1:n.511T>G
ENST00000298139.5:c.4287T>G ENSP00000298139.5:p.Gly1429=
ENST00000521620.5:n.2920T>G
NM_000553.4:c.4287T>G , LRG_524t1:c.4287T>G NP_000544.2:p.Gly1429=
XM_011544639.1:c.4206T>G XP_011542941.1:p.Gly1402=
XM_011544640.1:c.2688T>G XP_011542942.1:p.Gly896=
XR_949643.1:n.88-1772A>C
XR_949644.1:n.88-1772A>C
XR_949645.1:n.88-1772A>C
XR_949646.1:n.88-1772A>C
XR_949647.1:n.701-1772A>C
XR_949648.1:n.603-1772A>C
NM_000553.5:c.4287T>G NP_000544.2:p.Gly1429=
XM_011544639.3:c.4206T>G XP_011542941.1:p.Gly1402=
XM_024447265.1:c.4077T>G XP_024303033.1:p.Gly1359=
NM_000553.6:c.4287T>G MANE Select NP_000544.2:p.Gly1429=