Canonical Allele Identifier: CA2833045
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs753498883
ExAC: 4:4864400 C / A
gnomAD v2: 4-4864400-C-A
gnomAD v4: 4-4862673-C-A
MyVariant Identifiers: chr4:g.4864400C>A (hg19) chr4:g.4862673C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862673C>A , CM000666.2:g.4862673C>A GRCh38
NC_000004.11:g.4864400C>A , CM000666.1:g.4864400C>A GRCh37
NC_000004.10:g.4915301C>A NCBI36
NG_008121.1:g.8009C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.470-28C>A MANE Select ENSP00000372170.4:n.470-28C>A
ENST00000382723.4:c.470-28C>A ENSP00000372170.4:n.470-28C>A
ENST00000468421.1:n.182-28C>A
NM_002448.3:c.470-28C>A MANE Select NP_002439.2:n.470-28C>A
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