Canonical Allele Identifier: CA124432

Gene: MSX1

Linked Data

• ClinVar Variation Id: 14885
• ClinVar RCV Id: RCV001448310 ; RCV001528695
• dbSNP Id: rs104893854
• ExAC: 4:4862084 C / A
• gnomAD v2: 4-4862084-C-A
• gnomAD v3: 4-4860357-C-A
• gnomAD v4: 4-4860357-C-A
• MyVariant Identifiers: chr4:g.4862084C>A (hg19) ; chr4:g.4860357C>A (hg38)
• PubMed: PMID:15354328 ; PMID:16327884 ; PMID:16868654

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860357C>A , CM000666.2:g.4860357C>A	GRCh38
NC_000004.11:g.4862084C>A , CM000666.1:g.4862084C>A	GRCh37
NC_000004.10:g.4912985C>A	NCBI36
NG_008121.1:g.5693C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.458C>A MANE Select	ENSP00000372170.4:p.Pro153Gln
ENST00000382723.4:c.458C>A	ENSP00000372170.4:p.Pro153Gln
NM_002448.3:c.458C>A MANE Select	NP_002439.2:p.Pro153Gln