Canonical Allele Identifier: CA339873

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 1161
• ClinVar RCV Id: RCV000001220 ; RCV002227984 ; RCV001847561 ; RCV003320543 ; RCV003242958
• dbSNP Id: rs80338867
• gnomAD v4: 8-125056817-C-A
• MyVariant Identifiers: chr8:g.126069059C>A (hg19) ; chr8:g.125056817C>A (hg38)
• PubMed: PMID:17160902 ; PMID:20301727

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125056817C>A , CM000670.2:g.125056817C>A	GRCh38
NC_000008.10:g.126069059C>A , CM000670.1:g.126069059C>A	GRCh37
NC_000008.9:g.126138241C>A	NCBI36
NG_012636.1:g.40003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1876G>T MANE Select	ENSP00000318016.7:p.Val626Phe
ENST00000318410.11:c.1876G>T	ENSP00000318016.7:p.Val626Phe
ENST00000517845.5:c.1432G>T	ENSP00000429676.1:p.Val478Phe
NM_014846.3:c.1876G>T	NP_055661.3:p.Val626Phe
XM_005251120.2:c.1432G>T	XP_005251177.1:p.Val478Phe
XM_011517409.1:c.1876G>T	XP_011515711.1:p.Val626Phe
XM_011517410.1:c.1876G>T	XP_011515712.1:p.Val626Phe
NM_001330609.1:c.1432G>T	NP_001317538.1:p.Val478Phe
XM_017014113.2:c.1876G>T	XP_016869602.1:p.Val626Phe
NM_014846.4:c.1876G>T MANE Select	NP_055661.3:p.Val626Phe
NM_001330609.2:c.1432G>T	NP_001317538.1:p.Val478Phe