Canonical Allele Identifier: CA795530267
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1431748699
gnomAD v3: 4-4863240-C-A
gnomAD v4: 4-4863240-C-A
MyVariant Identifiers: chr4:g.4864967C>A (hg19) chr4:g.4863240C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863240C>A , CM000666.2:g.4863240C>A GRCh38
NC_000004.11:g.4864967C>A , CM000666.1:g.4864967C>A GRCh37
NC_000004.10:g.4915868C>A NCBI36
NG_008121.1:g.8576C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*97C>A MANE Select ENSP00000372170.4:n.*97C>A
ENST00000382723.4:c.*97C>A ENSP00000372170.4:n.*97C>A
NM_002448.3:c.*97C>A MANE Select NP_002439.2:n.*97C>A
Search 100 bp 5'
Search 100 bp 3'