Canonical Allele Identifier: CA8620647
Gene: WNT3 HGNC NCBI
LRRC37A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481339
ClinVar RCV Id: RCV001994157
dbSNP Id: rs780778750
ExAC: 17:44851046 C / T
gnomAD v2: 17-44851046-C-T
gnomAD v3: 17-46773680-C-T
gnomAD v4: 17-46773680-C-T
MyVariant Identifiers: chr17:g.44851046C>T (hg19) chr17:g.46773680C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46773680C>T , CM000679.2:g.46773680C>T GRCh38
NC_000017.10:g.44851046C>T , CM000679.1:g.44851046C>T GRCh37
NC_000017.9:g.42206209C>T NCBI36
NG_008084.2:g.50037G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706495.1:c.115G>A (WNT3) ENSP00000516418.1:p.Val39Ile
ENST00000225512.6:c.310G>A (WNT3) MANE Select ENSP00000225512.5:p.Val104Ile
ENST00000225512.5:c.310G>A (WNT3) ENSP00000225512.5:p.Val104Ile
NM_030753.4:c.310G>A (WNT3) NP_110380.1:p.Val104Ile
XM_024450773.1:c.4809+223161C>T (LRRC37A2) XP_024306541.1:n.4809+223161C>T
NM_030753.5:c.310G>A (WNT3) MANE Select NP_110380.1:p.Val104Ile
Search 100 bp 5'
Search 100 bp 3'