Canonical Allele Identifier: CA2833052

Gene: MSX1

Linked Data

• ClinVar Variation Id: 225414
• ClinVar RCV Id: RCV000490415 ; RCV000950563 ; RCV004541305
• dbSNP Id: rs150284621
• ExAC: 4:4864429 G / T
• gnomAD v2: 4-4864429-G-T
• gnomAD v3: 4-4862702-G-T
• gnomAD v4: 4-4862702-G-T
• MyVariant Identifiers: chr4:g.4864429G>T (hg19) ; chr4:g.4862702G>T (hg38)
• PubMed: PMID:12807959 ; PMID:21448236

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862702G>T , CM000666.2:g.4862702G>T	GRCh38
NC_000004.11:g.4864429G>T , CM000666.1:g.4864429G>T	GRCh37
NC_000004.10:g.4915330G>T	NCBI36
NG_008121.1:g.8038G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.471G>T MANE Select	ENSP00000372170.4:p.Arg157Ser
ENST00000382723.4:c.471G>T	ENSP00000372170.4:p.Arg157Ser
ENST00000468421.1:n.183G>T
NM_002448.3:c.471G>T MANE Select	NP_002439.2:p.Arg157Ser