Canonical Allele Identifier: CA351623235
Gene: WNT7A HGNC NCBI

Linked Data

dbSNP Id: rs546145028
gnomAD v2: 3-13896199-C-T
gnomAD v3: 3-13854702-C-T
gnomAD v4: 3-13854702-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13854702C>T , CM000665.2:g.13854702C>T GRCh38
NC_000003.11:g.13896199C>T , CM000665.1:g.13896199C>T GRCh37
NC_000003.10:g.13871200C>T NCBI36
NG_008088.1:g.30420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285018.5:c.400G>A MANE Select ENSP00000285018.4:p.Asp134Asn
ENST00000285018.4:c.400G>A ENSP00000285018.4:p.Asp134Asn
NM_004625.3:c.400G>A NP_004616.2:p.Asp134Asn
XM_011534090.1:c.199G>A XP_011532392.1:p.Asp67Asn
XM_011534091.1:c.199G>A XP_011532393.1:p.Asp67Asn
XM_011534091.2:c.199G>A XP_011532393.1:p.Asp67Asn
NM_004625.4:c.400G>A MANE Select NP_004616.2:p.Asp134Asn