Canonical Allele Identifier: CA516356458

Gene: WAS

Linked Data

• ClinVar Variation Id: 1590533
• ClinVar RCV Id: RCV002107439
• dbSNP Id: rs1557007301
• gnomAD v2: X-48547362-C-T
• gnomAD v3: X-48688973-C-T
• gnomAD v4: X-48688973-C-T
• COSMIC: COSM4462407
• MyVariant Identifiers: chrX:g.48547362C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688973C>T , CM000685.2:g.48688973C>T	GRCh38
NC_000023.10:g.48547362C>T , CM000685.1:g.48547362C>T	GRCh37
NC_000023.9:g.48432306C>T	NCBI36
NG_007877.1:g.10177C>T , LRG_125:g.10177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.489C>T
ENST00000698625.1:c.1245C>T	ENSP00000513844.1:p.Leu415=
ENST00000698626.1:c.1245C>T	ENSP00000513845.1:p.Leu415=
ENST00000698635.1:c.1245C>T	ENSP00000513850.1:p.Leu415=
ENST00000376701.5:c.1245C>T MANE Select	ENSP00000365891.4:p.Leu415=
ENST00000376701.4:c.1245C>T	ENSP00000365891.4:p.Leu415=
ENST00000474174.1:n.489C>T
NM_000377.2:c.1245C>T , LRG_125t1:c.1245C>T	NP_000368.1:p.Leu415=
XM_011543977.1:c.1089C>T	XP_011542279.1:p.Leu363=
XM_011543977.2:c.1089C>T	XP_011542279.1:p.Leu363=
XM_017029786.1:c.1245C>T	XP_016885275.1:p.Leu415=
NM_000377.3:c.1245C>T MANE Select	NP_000368.1:p.Leu415=