Canonical Allele Identifier: CA2266454
Gene: WNT7A HGNC NCBI

Linked Data

dbSNP Id: rs775364220
gnomAD v2: 3-13896206-A-G
gnomAD v4: 3-13854709-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13854709A>G , CM000665.2:g.13854709A>G GRCh38
NC_000003.11:g.13896206A>G , CM000665.1:g.13896206A>G GRCh37
NC_000003.10:g.13871207A>G NCBI36
NG_008088.1:g.30413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285018.5:c.393T>C MANE Select ENSP00000285018.4:p.Cys131=
ENST00000285018.4:c.393T>C ENSP00000285018.4:p.Cys131=
NM_004625.3:c.393T>C NP_004616.2:p.Cys131=
XM_011534090.1:c.192T>C XP_011532392.1:p.Cys64=
XM_011534091.1:c.192T>C XP_011532393.1:p.Cys64=
XM_011534091.2:c.192T>C XP_011532393.1:p.Cys64=
NM_004625.4:c.393T>C MANE Select NP_004616.2:p.Cys131=