Canonical Allele Identifier: CA2833112
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs570138459
ExAC: 4:4864729 C / A
gnomAD v2: 4-4864729-C-A
gnomAD v3: 4-4863002-C-A
gnomAD v4: 4-4863002-C-A
MyVariant Identifiers: chr4:g.4864729C>A (hg19) chr4:g.4863002C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863002C>A , CM000666.2:g.4863002C>A GRCh38
NC_000004.11:g.4864729C>A , CM000666.1:g.4864729C>A GRCh37
NC_000004.10:g.4915630C>A NCBI36
NG_008121.1:g.8338C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.771C>A MANE Select ENSP00000372170.4:p.Leu257=
ENST00000382723.4:c.771C>A ENSP00000372170.4:p.Leu257=
ENST00000468421.1:n.483C>A
NM_002448.3:c.771C>A MANE Select NP_002439.2:p.Leu257=
Search 100 bp 5'
Search 100 bp 3'