Canonical Allele Identifier: CA2833072
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3051849
ClinVar RCV Id: RCV004545583
dbSNP Id: rs140353960
ExAC: 4:4864504 G / A
gnomAD v2: 4-4864504-G-A
gnomAD v3: 4-4862777-G-A
gnomAD v4: 4-4862777-G-A
COSMIC: COSM4125001
MyVariant Identifiers: chr4:g.4864504G>A (hg19) chr4:g.4862777G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862777G>A , CM000666.2:g.4862777G>A GRCh38
NC_000004.11:g.4864504G>A , CM000666.1:g.4864504G>A GRCh37
NC_000004.10:g.4915405G>A NCBI36
NG_008121.1:g.8113G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.546G>A MANE Select ENSP00000372170.4:p.Ala182=
ENST00000382723.4:c.546G>A ENSP00000372170.4:p.Ala182=
ENST00000468421.1:n.258G>A
NM_002448.3:c.546G>A MANE Select NP_002439.2:p.Ala182=
Search 100 bp 5'
Search 100 bp 3'