Canonical Allele Identifier: CA2266325
Gene: WNT7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1922392
dbSNP Id: rs561275177
gnomAD v2: 3-13860554-A-G
gnomAD v3: 3-13819057-A-G
gnomAD v4: 3-13819057-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13819057A>G , CM000665.2:g.13819057A>G GRCh38
NC_000003.11:g.13860554A>G , CM000665.1:g.13860554A>G GRCh37
NC_000003.10:g.13835555A>G NCBI36
NG_008088.1:g.66065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285018.5:c.937T>C MANE Select ENSP00000285018.4:p.Tyr313His
ENST00000285018.4:c.937T>C ENSP00000285018.4:p.Tyr313His
NM_004625.3:c.937T>C NP_004616.2:p.Tyr313His
XM_011534090.1:c.736T>C XP_011532392.1:p.Tyr246His
XM_011534091.1:c.736T>C XP_011532393.1:p.Tyr246His
XM_011534091.2:c.736T>C XP_011532393.1:p.Tyr246His
NM_004625.4:c.937T>C MANE Select NP_004616.2:p.Tyr313His