Canonical Allele Identifier: CA438195531
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863125-C-T
MyVariant Identifiers: chr4:g.4864852C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863125C>T , CM000666.2:g.4863125C>T GRCh38
NC_000004.11:g.4864852C>T , CM000666.1:g.4864852C>T GRCh37
NC_000004.10:g.4915753C>T NCBI36
NG_008121.1:g.8461C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.894C>T MANE Select ENSP00000372170.4:p.Ser298=
ENST00000382723.4:c.894C>T ENSP00000372170.4:p.Ser298=
NM_002448.3:c.894C>T MANE Select NP_002439.2:p.Ser298=