Canonical Allele Identifier: CA2833115

Gene: MSX1

Linked Data

• ClinVar Variation Id: 703322
• ClinVar RCV Id: RCV001503619
• dbSNP Id: rs535538923
• ExAC: 4:4864736 C / A
• gnomAD v2: 4-4864736-C-A
• gnomAD v3: 4-4863009-C-A
• gnomAD v4: 4-4863009-C-A
• COSMIC: COSM4585096
• MyVariant Identifiers: chr4:g.4864736C>A (hg19) ; chr4:g.4863009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863009C>A , CM000666.2:g.4863009C>A	GRCh38
NC_000004.11:g.4864736C>A , CM000666.1:g.4864736C>A	GRCh37
NC_000004.10:g.4915637C>A	NCBI36
NG_008121.1:g.8345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.778C>A MANE Select	ENSP00000372170.4:p.Pro260Thr
ENST00000382723.4:c.778C>A	ENSP00000372170.4:p.Pro260Thr
ENST00000468421.1:n.490C>A
NM_002448.3:c.778C>A MANE Select	NP_002439.2:p.Pro260Thr