Canonical Allele Identifier: CA4873261
Gene: WASHC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 911127
ClinVar RCV Id: RCV001163429 RCV002559566
dbSNP Id: rs749478956
ExAC: 8:126044536 C / T
gnomAD v2: 8-126044536-C-T
gnomAD v3: 8-125032294-C-T
gnomAD v4: 8-125032294-C-T
MyVariant Identifiers: chr8:g.126044536C>T (hg19) chr8:g.125032294C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125032294C>T , CM000670.2:g.125032294C>T GRCh38
NC_000008.10:g.126044536C>T , CM000670.1:g.126044536C>T GRCh37
NC_000008.9:g.126113718C>T NCBI36
NG_012636.1:g.64526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318410.12:c.3282G>A MANE Select ENSP00000318016.7:p.Gln1094=
ENST00000318410.11:c.3282G>A ENSP00000318016.7:p.Gln1094=
ENST00000517845.5:c.2838G>A ENSP00000429676.1:p.Gln946=
ENST00000519042.2:n.421G>A
NM_014846.3:c.3282G>A NP_055661.3:p.Gln1094=
XM_005251120.2:c.2838G>A XP_005251177.1:p.Gln946=
NM_001330609.1:c.2838G>A NP_001317538.1:p.Gln946=
XM_017014113.2:c.3282G>A XP_016869602.1:p.Gln1094=
NM_014846.4:c.3282G>A MANE Select NP_055661.3:p.Gln1094=
NM_001330609.2:c.2838G>A NP_001317538.1:p.Gln946=
Search 100 bp 5'
Search 100 bp 3'