Canonical Allele Identifier: CA2833154

Gene: MSX1

Linked Data

• dbSNP Id: rs757564572
• ExAC: 4:4864903 G / A
• gnomAD v2: 4-4864903-G-A
• gnomAD v3: 4-4863176-G-A
• gnomAD v4: 4-4863176-G-A
• MyVariant Identifiers: chr4:g.4864903G>A (hg19) ; chr4:g.4863176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863176G>A , CM000666.2:g.4863176G>A	GRCh38
NC_000004.11:g.4864903G>A , CM000666.1:g.4864903G>A	GRCh37
NC_000004.10:g.4915804G>A	NCBI36
NG_008121.1:g.8512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.*33G>A MANE Select	ENSP00000372170.4:n.*33G>A
ENST00000382723.4:c.*33G>A	ENSP00000372170.4:n.*33G>A
NM_002448.3:c.*33G>A MANE Select	NP_002439.2:n.*33G>A