Canonical Allele Identifier: CA438195513
Gene: MSX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.4864828C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863101C>A , CM000666.2:g.4863101C>A GRCh38
NC_000004.11:g.4864828C>A , CM000666.1:g.4864828C>A GRCh37
NC_000004.10:g.4915729C>A NCBI36
NG_008121.1:g.8437C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.870C>A MANE Select ENSP00000372170.4:p.Leu290=
ENST00000382723.4:c.870C>A ENSP00000372170.4:p.Leu290=
NM_002448.3:c.870C>A MANE Select NP_002439.2:p.Leu290=