Canonical Allele Identifier: CA2833115
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 703322
ClinVar RCV Id: RCV001503619
dbSNP Id: rs535538923
ExAC: 4:4864736 C / A
gnomAD v2: 4-4864736-C-A
gnomAD v3: 4-4863009-C-A
gnomAD v4: 4-4863009-C-A
COSMIC: COSM4585096
MyVariant Identifiers: chr4:g.4864736C>A (hg19) chr4:g.4863009C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863009C>A , CM000666.2:g.4863009C>A GRCh38
NC_000004.11:g.4864736C>A , CM000666.1:g.4864736C>A GRCh37
NC_000004.10:g.4915637C>A NCBI36
NG_008121.1:g.8345C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.778C>A MANE Select ENSP00000372170.4:p.Pro260Thr
ENST00000382723.4:c.778C>A ENSP00000372170.4:p.Pro260Thr
ENST00000468421.1:n.490C>A
NM_002448.3:c.778C>A MANE Select NP_002439.2:p.Pro260Thr
Search 100 bp 5'
Search 100 bp 3'