Canonical Allele Identifier: CA071530
Gene: WNT7A HGNC NCBI

Linked Data

ClinVar Variation Id: 221926
ClinVar RCV Id: RCV000207359
dbSNP Id: rs756214872
ExAC: 3:13916510 G / A
gnomAD v2: 3-13916510-G-A
gnomAD v4: 3-13875013-G-A
COSMIC: COSM3588076
MyVariant Identifiers: chr3:g.13916510G>A (hg19) chr3:g.13875013G>A (hg38)
PubMed: PMID:26893459
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13875013G>A , CM000665.2:g.13875013G>A GRCh38
NC_000003.11:g.13916510G>A , CM000665.1:g.13916510G>A GRCh37
NC_000003.10:g.13891511G>A NCBI36
NG_008088.1:g.10109C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000285018.5:c.232C>T MANE Select ENSP00000285018.4:p.Arg78Cys
ENST00000285018.4:c.232C>T ENSP00000285018.4:p.Arg78Cys
ENST00000489346.1:n.101C>T
ENST00000497808.1:n.464C>T
NM_004625.3:c.232C>T NP_004616.2:p.Arg78Cys
XM_011534090.1:c.31C>T XP_011532392.1:p.Arg11Cys
XM_011534091.1:c.31C>T XP_011532393.1:p.Arg11Cys
XM_011534091.2:c.31C>T XP_011532393.1:p.Arg11Cys
NM_004625.4:c.232C>T MANE Select NP_004616.2:p.Arg78Cys
Search 100 bp 5'
Search 100 bp 3'