Canonical Allele Identifier: CA549389245

Gene: MSX1

Linked Data

• dbSNP Id: rs577885069
• gnomAD v2: 4-4864893-T-C
• MyVariant Identifiers: chr4:g.4864893T>C (hg19) ; chr4:g.4863166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863166T>C , CM000666.2:g.4863166T>C	GRCh38
NC_000004.11:g.4864893T>C , CM000666.1:g.4864893T>C	GRCh37
NC_000004.10:g.4915794T>C	NCBI36
NG_008121.1:g.8502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.*23T>C MANE Select	ENSP00000372170.4:n.*23T>C
ENST00000382723.4:c.*23T>C	ENSP00000372170.4:n.*23T>C
NM_002448.3:c.*23T>C MANE Select	NP_002439.2:n.*23T>C