Canonical Allele Identifier: CA2266482
Gene: WNT7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1278485
ClinVar RCV Id: RCV001688093
dbSNP Id: rs12639607
gnomAD v2: 3-13896284-C-T
gnomAD v3: 3-13854787-C-T
gnomAD v4: 3-13854787-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13854787C>T , CM000665.2:g.13854787C>T GRCh38
NC_000003.11:g.13896284C>T , CM000665.1:g.13896284C>T GRCh37
NC_000003.10:g.13871285C>T NCBI36
NG_008088.1:g.30335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000285018.5:c.315G>A MANE Select ENSP00000285018.4:p.Ala105=
ENST00000285018.4:c.315G>A ENSP00000285018.4:p.Ala105=
NM_004625.3:c.315G>A NP_004616.2:p.Ala105=
XM_011534090.1:c.114G>A XP_011532392.1:p.Ala38=
XM_011534091.1:c.114G>A XP_011532393.1:p.Ala38=
XM_011534091.2:c.114G>A XP_011532393.1:p.Ala38=
NM_004625.4:c.315G>A MANE Select NP_004616.2:p.Ala105=