Canonical Allele Identifier: CA549389253

Gene: MSX1

Linked Data

• dbSNP Id: rs1053947732
• gnomAD v2: 4-4864902-C-G
• gnomAD v4: 4-4863175-C-G
• MyVariant Identifiers: chr4:g.4864902C>G (hg19) ; chr4:g.4863175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863175C>G , CM000666.2:g.4863175C>G	GRCh38
NC_000004.11:g.4864902C>G , CM000666.1:g.4864902C>G	GRCh37
NC_000004.10:g.4915803C>G	NCBI36
NG_008121.1:g.8511C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.*32C>G MANE Select	ENSP00000372170.4:n.*32C>G
ENST00000382723.4:c.*32C>G	ENSP00000372170.4:n.*32C>G
NM_002448.3:c.*32C>G MANE Select	NP_002439.2:n.*32C>G