Canonical Allele Identifier: CA356138541

Gene: MSX1

Linked Data

• dbSNP Id: rs1303920433
• gnomAD v2: 4-4864602-A-G
• gnomAD v4: 4-4862875-A-G
• MyVariant Identifiers: chr4:g.4864602A>G (hg19) ; chr4:g.4862875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862875A>G , CM000666.2:g.4862875A>G	GRCh38
NC_000004.11:g.4864602A>G , CM000666.1:g.4864602A>G	GRCh37
NC_000004.10:g.4915503A>G	NCBI36
NG_008121.1:g.8211A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.644A>G MANE Select	ENSP00000372170.4:p.Gln215Arg
ENST00000382723.4:c.644A>G	ENSP00000372170.4:p.Gln215Arg
ENST00000468421.1:n.356A>G
NM_002448.3:c.644A>G MANE Select	NP_002439.2:p.Gln215Arg