Canonical Allele Identifier: CA245254

Gene: WNT7A

Linked Data

• ClinVar Variation Id: 197238
• ClinVar RCV Id: RCV000178217 ; RCV003479046
• dbSNP Id: rs149962459
• ExAC: 3:13860630 C / T
• gnomAD v2: 3-13860630-C-T
• gnomAD v3: 3-13819133-C-T
• gnomAD v4: 3-13819133-C-T
• MyVariant Identifiers: chr3:g.13860630C>T (hg19) ; chr3:g.13819133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.13819133C>T , CM000665.2:g.13819133C>T	GRCh38
NC_000003.11:g.13860630C>T , CM000665.1:g.13860630C>T	GRCh37
NC_000003.10:g.13835631C>T	NCBI36
NG_008088.1:g.65989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285018.5:c.861G>A MANE Select	ENSP00000285018.4:p.Val287=
ENST00000285018.4:c.861G>A	ENSP00000285018.4:p.Val287=
NM_004625.3:c.861G>A	NP_004616.2:p.Val287=
XM_011534090.1:c.660G>A	XP_011532392.1:p.Val220=
XM_011534091.1:c.660G>A	XP_011532393.1:p.Val220=
XM_011534091.2:c.660G>A	XP_011532393.1:p.Val220=
NM_004625.4:c.861G>A MANE Select	NP_004616.2:p.Val287=