Canonical Allele Identifier: CA91672473
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3017767
ClinVar RCV Id: RCV003874366
dbSNP Id: rs1040895372
gnomAD v2: 4-4864870-G-A
gnomAD v3: 4-4863143-G-A
gnomAD v4: 4-4863143-G-A
MyVariant Identifiers: chr4:g.4864870G>A (hg19) chr4:g.4863143G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863143G>A , CM000666.2:g.4863143G>A GRCh38
NC_000004.11:g.4864870G>A , CM000666.1:g.4864870G>A GRCh37
NC_000004.10:g.4915771G>A NCBI36
NG_008121.1:g.8479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.912G>A MANE Select ENSP00000372170.4:p.Ter304=
ENST00000382723.4:c.912G>A ENSP00000372170.4:p.Ter304=
NM_002448.3:c.912G>A MANE Select NP_002439.2:p.Ter304=
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