Canonical Allele Identifier: CA2833123

Gene: MSX1

Linked Data

• dbSNP Id: rs747948603
• ExAC: 4:4864758 C / T
• gnomAD v2: 4-4864758-C-T
• gnomAD v3: 4-4863031-C-T
• gnomAD v4: 4-4863031-C-T
• MyVariant Identifiers: chr4:g.4864758C>T (hg19) ; chr4:g.4863031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863031C>T , CM000666.2:g.4863031C>T	GRCh38
NC_000004.11:g.4864758C>T , CM000666.1:g.4864758C>T	GRCh37
NC_000004.10:g.4915659C>T	NCBI36
NG_008121.1:g.8367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.800C>T MANE Select	ENSP00000372170.4:p.Ala267Val
ENST00000382723.4:c.800C>T	ENSP00000372170.4:p.Ala267Val
NM_002448.3:c.800C>T MANE Select	NP_002439.2:p.Ala267Val