Canonical Allele Identifier: CA2266417

Gene: WNT7A

Linked Data

• ClinVar Variation Id: 500584
• ClinVar RCV Id: RCV000597563 ; RCV003935617
• dbSNP Id: rs149363953
• ExAC: 3:13896044 G / A
• gnomAD v2: 3-13896044-G-A
• gnomAD v3: 3-13854547-G-A
• gnomAD v4: 3-13854547-G-A
• COSMIC: COSM1419389
• MyVariant Identifiers: chr3:g.13896044G>A (hg19) ; chr3:g.13854547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.13854547G>A , CM000665.2:g.13854547G>A	GRCh38
NC_000003.11:g.13896044G>A , CM000665.1:g.13896044G>A	GRCh37
NC_000003.10:g.13871045G>A	NCBI36
NG_008088.1:g.30575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285018.5:c.555C>T MANE Select	ENSP00000285018.4:p.Asn185=
ENST00000285018.4:c.555C>T	ENSP00000285018.4:p.Asn185=
NM_004625.3:c.555C>T	NP_004616.2:p.Asn185=
XM_011534090.1:c.354C>T	XP_011532392.1:p.Asn118=
XM_011534091.1:c.354C>T	XP_011532393.1:p.Asn118=
XM_011534091.2:c.354C>T	XP_011532393.1:p.Asn118=
NM_004625.4:c.555C>T MANE Select	NP_004616.2:p.Asn185=