Canonical Allele Identifier: CA356138177

Gene: MSX1

Linked Data

• gnomAD v4: 4-4862699-A-G
• MyVariant Identifiers: chr4:g.4864426A>G (hg19) ; chr4:g.4862699A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862699A>G , CM000666.2:g.4862699A>G	GRCh38
NC_000004.11:g.4864426A>G , CM000666.1:g.4864426A>G	GRCh37
NC_000004.10:g.4915327A>G	NCBI36
NG_008121.1:g.8035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.470-2A>G MANE Select	ENSP00000372170.4:n.470-2A>G
ENST00000382723.4:c.470-2A>G	ENSP00000372170.4:n.470-2A>G
ENST00000468421.1:n.182-2A>G
NM_002448.3:c.470-2A>G MANE Select	NP_002439.2:n.470-2A>G