Canonical Allele Identifier: CA2833070
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418913
ClinVar RCV Id: RCV001954469
dbSNP Id: rs549162057
ExAC: 4:4864502 G / A
gnomAD v2: 4-4864502-G-A
gnomAD v3: 4-4862775-G-A
gnomAD v4: 4-4862775-G-A
MyVariant Identifiers: chr4:g.4864502G>A (hg19) chr4:g.4862775G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862775G>A , CM000666.2:g.4862775G>A GRCh38
NC_000004.11:g.4864502G>A , CM000666.1:g.4864502G>A GRCh37
NC_000004.10:g.4915403G>A NCBI36
NG_008121.1:g.8111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.544G>A MANE Select ENSP00000372170.4:p.Ala182Thr
ENST00000382723.4:c.544G>A ENSP00000372170.4:p.Ala182Thr
ENST00000468421.1:n.256G>A
NM_002448.3:c.544G>A MANE Select NP_002439.2:p.Ala182Thr
Search 100 bp 5'
Search 100 bp 3'