Canonical Allele Identifier: CA356138275

Gene: MSX1

Linked Data

• dbSNP Id: rs1256847116
• gnomAD v2: 4-4864474-C-A
• gnomAD v4: 4-4862747-C-A
• MyVariant Identifiers: chr4:g.4864474C>A (hg19) ; chr4:g.4862747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862747C>A , CM000666.2:g.4862747C>A	GRCh38
NC_000004.11:g.4864474C>A , CM000666.1:g.4864474C>A	GRCh37
NC_000004.10:g.4915375C>A	NCBI36
NG_008121.1:g.8083C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.516C>A MANE Select	ENSP00000372170.4:p.Asn172Lys
ENST00000382723.4:c.516C>A	ENSP00000372170.4:p.Asn172Lys
ENST00000468421.1:n.228C>A
NM_002448.3:c.516C>A MANE Select	NP_002439.2:p.Asn172Lys