Canonical Allele Identifier: CA356139094
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1222467199
gnomAD v2: 4-4864805-C-G
gnomAD v3: 4-4863078-C-G
gnomAD v4: 4-4863078-C-G
MyVariant Identifiers: chr4:g.4864805C>G (hg19) chr4:g.4863078C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863078C>G , CM000666.2:g.4863078C>G GRCh38
NC_000004.11:g.4864805C>G , CM000666.1:g.4864805C>G GRCh37
NC_000004.10:g.4915706C>G NCBI36
NG_008121.1:g.8414C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.847C>G MANE Select ENSP00000372170.4:p.Leu283Val
ENST00000382723.4:c.847C>G ENSP00000372170.4:p.Leu283Val
NM_002448.3:c.847C>G MANE Select NP_002439.2:p.Leu283Val
Search 100 bp 5'
Search 100 bp 3'