Canonical Allele Identifier: CA356137979

Gene: MSX1

Linked Data

• dbSNP Id: rs1737882662
• gnomAD v3: 4-4860288-C-A
• gnomAD v4: 4-4860288-C-A
• MyVariant Identifiers: chr4:g.4862015C>A (hg19) ; chr4:g.4860288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860288C>A , CM000666.2:g.4860288C>A	GRCh38
NC_000004.11:g.4862015C>A , CM000666.1:g.4862015C>A	GRCh37
NC_000004.10:g.4912916C>A	NCBI36
NG_008121.1:g.5624C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.389C>A MANE Select	ENSP00000372170.4:p.Ala130Glu
ENST00000382723.4:c.389C>A	ENSP00000372170.4:p.Ala130Glu
NM_002448.3:c.389C>A MANE Select	NP_002439.2:p.Ala130Glu