Canonical Allele Identifier: CA356139132

Gene: MSX1

Linked Data

• gnomAD v4: 4-4863088-C-A
• MyVariant Identifiers: chr4:g.4864815C>A (hg19) ; chr4:g.4863088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863088C>A , CM000666.2:g.4863088C>A	GRCh38
NC_000004.11:g.4864815C>A , CM000666.1:g.4864815C>A	GRCh37
NC_000004.10:g.4915716C>A	NCBI36
NG_008121.1:g.8424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.857C>A MANE Select	ENSP00000372170.4:p.Ala286Glu
ENST00000382723.4:c.857C>A	ENSP00000372170.4:p.Ala286Glu
NM_002448.3:c.857C>A MANE Select	NP_002439.2:p.Ala286Glu