Canonical Allele Identifier: CA1023281

Gene: VANGL1

Linked Data

• dbSNP Id: rs776892785
• ExAC: 1:116206697 G / A
• gnomAD v2: 1-116206697-G-A
• gnomAD v3: 1-115664076-G-A
• gnomAD v4: 1-115664076-G-A
• MyVariant Identifiers: chr1:g.116206697G>A (hg19) ; chr1:g.115664076G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115664076G>A , CM000663.2:g.115664076G>A	GRCh38
NC_000001.10:g.116206697G>A , CM000663.1:g.116206697G>A	GRCh37
NC_000001.9:g.116008220G>A	NCBI36
NG_016548.1:g.27124G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355485.7:c.620G>A MANE Select	ENSP00000347672.2:p.Arg207His
ENST00000310260.7:c.620G>A	ENSP00000310800.3:p.Arg207His
ENST00000355485.6:c.620G>A	ENSP00000347672.2:p.Arg207His
ENST00000369509.1:c.620G>A	ENSP00000358522.1:p.Arg207His
ENST00000369510.8:c.614G>A	ENSP00000358523.3:p.Arg205His
NM_001172411.1:c.614G>A	NP_001165882.1:p.Arg205His
NM_001172412.1:c.620G>A	NP_001165883.1:p.Arg207His
NM_138959.2:c.620G>A	NP_620409.1:p.Arg207His
NM_138959.3:c.620G>A MANE Select	NP_620409.1:p.Arg207His
NM_001172411.2:c.614G>A	NP_001165882.1:p.Arg205His
NM_001172412.2:c.620G>A	NP_001165883.1:p.Arg207His