Canonical Allele Identifier: CA356138876

Gene: MSX1

Linked Data

• dbSNP Id: rs1737958857
• gnomAD v4: 4-4863033-G-A
• COSMIC: COSM3604316
• MyVariant Identifiers: chr4:g.4864760G>A (hg19) ; chr4:g.4863033G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863033G>A , CM000666.2:g.4863033G>A	GRCh38
NC_000004.11:g.4864760G>A , CM000666.1:g.4864760G>A	GRCh37
NC_000004.10:g.4915661G>A	NCBI36
NG_008121.1:g.8369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.802G>A MANE Select	ENSP00000372170.4:p.Gly268Ser
ENST00000382723.4:c.802G>A	ENSP00000372170.4:p.Gly268Ser
NM_002448.3:c.802G>A MANE Select	NP_002439.2:p.Gly268Ser