Canonical Allele Identifier: CA119262
Gene: WNT7A HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.13854777C>T
GRCh37 chr3:g.13896274C>T
Revel Score:
ENST00000285018 (MANE Select) 0.901
ClinVar Allele:
23100
ClinVar RCV:
RCV000008527
ClinVar Variation:
8061
dbSNP:
104893832
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13854777C>T , CM000665.2:g.13854777C>T GRCh38
NC_000003.11:g.13896274C>T , CM000665.1:g.13896274C>T GRCh37
NC_000003.10:g.13871275C>T NCBI36
NG_008088.1:g.30345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285018.5:c.325G>A MANE Select ENSP00000285018.4:p.Ala109Thr
ENST00000285018.4:c.325G>A ENSP00000285018.4:p.Ala109Thr
NM_004625.3:c.325G>A NP_004616.2:p.Ala109Thr
XM_011534090.1:c.124G>A XP_011532392.1:p.Ala42Thr
XM_011534091.1:c.124G>A XP_011532393.1:p.Ala42Thr
XM_011534091.2:c.124G>A XP_011532393.1:p.Ala42Thr
NM_004625.4:c.325G>A MANE Select NP_004616.2:p.Ala109Thr
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