Canonical Allele Identifier: CA10607531

Gene: VANGL1

Linked Data

• ClinVar Variation Id: 292002
• ClinVar RCV Id: RCV000306190 ; RCV002469102
• dbSNP Id: rs886045118
• gnomAD v2: 1-116194011-C-T
• gnomAD v4: 1-115651390-C-T
• MyVariant Identifiers: chr1:g.116194011C>T (hg19) ; chr1:g.115651390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115651390C>T , CM000663.2:g.115651390C>T	GRCh38
NC_000001.10:g.116194011C>T , CM000663.1:g.116194011C>T	GRCh37
NC_000001.9:g.115995534C>T	NCBI36
NG_016548.1:g.14438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.-24C>T MANE Select	ENSP00000347672.2:n.-24C>T
ENST00000310260.7:c.-24C>T	ENSP00000310800.3:n.-24C>T
ENST00000355485.6:c.-24C>T	ENSP00000347672.2:n.-24C>T
ENST00000369510.8:c.-24C>T	ENSP00000358523.3:n.-24C>T
NM_001172411.1:c.-24C>T	NP_001165882.1:n.-24C>T
NM_001172412.1:c.-24C>T	NP_001165883.1:n.-24C>T
NM_138959.2:c.-24C>T	NP_620409.1:n.-24C>T
NM_138959.3:c.-24C>T MANE Select	NP_620409.1:n.-24C>T
NM_001172411.2:c.-24C>T	NP_001165882.1:n.-24C>T
NM_001172412.2:c.-24C>T	NP_001165883.1:n.-24C>T