Canonical Allele Identifier: CA2833003
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1232521
ClinVar RCV Id: RCV001620869
dbSNP Id: rs10014077
ExAC: 4:4864230 A / G
gnomAD v2: 4-4864230-A-G
gnomAD v3: 4-4862503-A-G
gnomAD v4: 4-4862503-A-G
MyVariant Identifiers: chr4:g.4864230A>G (hg19) chr4:g.4862503A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862503A>G , CM000666.2:g.4862503A>G GRCh38
NC_000004.11:g.4864230A>G , CM000666.1:g.4864230A>G GRCh37
NC_000004.10:g.4915131A>G NCBI36
NG_008121.1:g.7839A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-198A>G MANE Select ENSP00000372170.4:n.470-198A>G
ENST00000382723.4:c.470-198A>G ENSP00000372170.4:n.470-198A>G
ENST00000468421.1:n.76A>G
NM_002448.3:c.470-198A>G MANE Select NP_002439.2:n.470-198A>G
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