Canonical Allele Identifier: CA2266479
Gene: WNT7A HGNC NCBI

Linked Data

dbSNP Id: rs767029914
gnomAD v2: 3-13896279-G-A
gnomAD v3: 3-13854782-G-A
gnomAD v4: 3-13854782-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13854782G>A , CM000665.2:g.13854782G>A GRCh38
NC_000003.11:g.13896279G>A , CM000665.1:g.13896279G>A GRCh37
NC_000003.10:g.13871280G>A NCBI36
NG_008088.1:g.30340C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000285018.5:c.320C>T MANE Select ENSP00000285018.4:p.Thr107Ile
ENST00000285018.4:c.320C>T ENSP00000285018.4:p.Thr107Ile
NM_004625.3:c.320C>T NP_004616.2:p.Thr107Ile
XM_011534090.1:c.119C>T XP_011532392.1:p.Thr40Ile
XM_011534091.1:c.119C>T XP_011532393.1:p.Thr40Ile
XM_011534091.2:c.119C>T XP_011532393.1:p.Thr40Ile
NM_004625.4:c.320C>T MANE Select NP_004616.2:p.Thr107Ile