Canonical Allele Identifier: CA356138357
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737947469
gnomAD v3: 4-4862788-C-A
gnomAD v4: 4-4862788-C-A
MyVariant Identifiers: chr4:g.4864515C>A (hg19) chr4:g.4862788C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862788C>A , CM000666.2:g.4862788C>A GRCh38
NC_000004.11:g.4864515C>A , CM000666.1:g.4864515C>A GRCh37
NC_000004.10:g.4915416C>A NCBI36
NG_008121.1:g.8124C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.557C>A MANE Select ENSP00000372170.4:p.Ala186Glu
ENST00000382723.4:c.557C>A ENSP00000372170.4:p.Ala186Glu
ENST00000468421.1:n.269C>A
NM_002448.3:c.557C>A MANE Select NP_002439.2:p.Ala186Glu
Search 100 bp 5'
Search 100 bp 3'