Canonical Allele Identifier: CA10926897

Gene: VANGL1

Linked Data

• ClinVar Variation Id: 1236883
• ClinVar RCV Id: RCV001639398
• dbSNP Id: rs12144356
• gnomAD v2: 1-116226459-C-T
• gnomAD v3: 1-115683838-C-T
• gnomAD v4: 1-115683838-C-T
• MyVariant Identifiers: chr1:g.116226459C>T (hg19) ; chr1:g.115683838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683838C>T , CM000663.2:g.115683838C>T	GRCh38
NC_000001.10:g.116226459C>T , CM000663.1:g.116226459C>T	GRCh37
NC_000001.9:g.116027982C>T	NCBI36
NG_016548.1:g.46886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.947-106C>T MANE Select	ENSP00000347672.2:n.947-106C>T
ENST00000310260.7:c.947-106C>T	ENSP00000310800.3:n.947-106C>T
ENST00000355485.6:c.947-106C>T	ENSP00000347672.2:n.947-106C>T
ENST00000369509.1:c.947-106C>T	ENSP00000358522.1:n.947-106C>T
ENST00000369510.8:c.941-106C>T	ENSP00000358523.3:n.941-106C>T
ENST00000474344.1:n.329-106C>T
ENST00000478369.5:n.231-106C>T
NM_001172411.1:c.941-106C>T	NP_001165882.1:n.941-106C>T
NM_001172412.1:c.947-106C>T	NP_001165883.1:n.947-106C>T
NM_138959.2:c.947-106C>T	NP_620409.1:n.947-106C>T
NM_138959.3:c.947-106C>T MANE Select	NP_620409.1:n.947-106C>T
NM_001172411.2:c.941-106C>T	NP_001165882.1:n.941-106C>T
NM_001172412.2:c.947-106C>T	NP_001165883.1:n.947-106C>T