Canonical Allele Identifier: CA10607704
Gene: VANGL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292093
ClinVar RCV Id: RCV000347947 RCV000348097 RCV000401932
dbSNP Id: rs4348723
gnomAD v2: 1-116239633-T-G
gnomAD v3: 1-115697012-T-G
gnomAD v4: 1-115697012-T-G
MyVariant Identifiers: chr1:g.116239633T>G (hg19) chr1:g.115697012T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115697012T>G , CM000663.2:g.115697012T>G GRCh38
NC_000001.10:g.116239633T>G , CM000663.1:g.116239633T>G GRCh37
NC_000001.9:g.116041156T>G NCBI36
NG_016548.1:g.60060T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355485.7:c.*5633T>G MANE Select ENSP00000347672.2:n.*5633T>G
ENST00000355485.6:c.*5633T>G ENSP00000347672.2:n.*5633T>G
ENST00000369510.8:c.*5633T>G ENSP00000358523.3:n.*5633T>G
NM_001172411.1:c.*5633T>G NP_001165882.1:n.*5633T>G
NM_001172412.1:c.*5633T>G NP_001165883.1:n.*5633T>G
NM_138959.2:c.*5633T>G NP_620409.1:n.*5633T>G
NM_138959.3:c.*5633T>G MANE Select NP_620409.1:n.*5633T>G
NM_001172411.2:c.*5633T>G NP_001165882.1:n.*5633T>G
NM_001172412.2:c.*5633T>G NP_001165883.1:n.*5633T>G
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