Canonical Allele Identifier: CA1023389

Gene: VANGL1

Linked Data

• ClinVar Variation Id: 3188139
• ClinVar RCV Id: RCV004480051
• dbSNP Id: rs141396495
• ExAC: 1:116226595 G / A
• gnomAD v2: 1-116226595-G-A
• gnomAD v3: 1-115683974-G-A
• gnomAD v4: 1-115683974-G-A
• MyVariant Identifiers: chr1:g.116226595G>A (hg19) ; chr1:g.115683974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683974G>A , CM000663.2:g.115683974G>A	GRCh38
NC_000001.10:g.116226595G>A , CM000663.1:g.116226595G>A	GRCh37
NC_000001.9:g.116028118G>A	NCBI36
NG_016548.1:g.47022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.977G>A MANE Select	ENSP00000347672.2:p.Arg326Gln
ENST00000310260.7:c.977G>A	ENSP00000310800.3:p.Arg326Gln
ENST00000355485.6:c.977G>A	ENSP00000347672.2:p.Arg326Gln
ENST00000369509.1:c.977G>A	ENSP00000358522.1:p.Arg326Gln
ENST00000369510.8:c.971G>A	ENSP00000358523.3:p.Arg324Gln
ENST00000474344.1:n.359G>A
ENST00000478369.5:n.261G>A
NM_001172411.1:c.971G>A	NP_001165882.1:p.Arg324Gln
NM_001172412.1:c.977G>A	NP_001165883.1:p.Arg326Gln
NM_138959.2:c.977G>A	NP_620409.1:p.Arg326Gln
NM_138959.3:c.977G>A MANE Select	NP_620409.1:p.Arg326Gln
NM_001172411.2:c.971G>A	NP_001165882.1:p.Arg324Gln
NM_001172412.2:c.977G>A	NP_001165883.1:p.Arg326Gln