Canonical Allele Identifier: CA114943
Gene: VANGL1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115683980T>C
GRCh37 chr1:g.116226601T>C
Revel Score:
ENST00000355485 (MANE Select) 0.612
ENST00000369510 0.612
ENST00000310260 0.612
ENST00000369509 0.612
gnomAD v2:
1:116226601 T / C
gnomAD v3:
1:115683980 T / C
gnomAD v4:
chr1-115683980-T-C
Joint Max Group AF 0.00000615 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000001413
ClinVar Variation:
1348
dbSNP:
121918220
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115683980T>C , CM000663.2:g.115683980T>C GRCh38
NC_000001.10:g.116226601T>C , CM000663.1:g.116226601T>C GRCh37
NC_000001.9:g.116028124T>C NCBI36
NG_016548.1:g.47028T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.983T>C MANE Select ENSP00000347672.2:p.Met328Thr
ENST00000310260.7:c.983T>C ENSP00000310800.3:p.Met328Thr
ENST00000355485.6:c.983T>C ENSP00000347672.2:p.Met328Thr
ENST00000369509.1:c.983T>C ENSP00000358522.1:p.Met328Thr
ENST00000369510.8:c.977T>C ENSP00000358523.3:p.Met326Thr
ENST00000474344.1:n.365T>C
ENST00000478369.5:n.267T>C
NM_001172411.1:c.977T>C NP_001165882.1:p.Met326Thr
NM_001172412.1:c.983T>C NP_001165883.1:p.Met328Thr
NM_138959.2:c.983T>C NP_620409.1:p.Met328Thr
NM_138959.3:c.983T>C MANE Select NP_620409.1:p.Met328Thr
NM_001172411.2:c.977T>C NP_001165882.1:p.Met326Thr
NM_001172412.2:c.983T>C NP_001165883.1:p.Met328Thr
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