Canonical Allele Identifier: CA795529119

Gene: MSX1

Linked Data

• dbSNP Id: rs1305827848
• gnomAD v3: 4-4862351-G-C
• gnomAD v4: 4-4862351-G-C
• MyVariant Identifiers: chr4:g.4864078G>C (hg19) ; chr4:g.4862351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862351G>C , CM000666.2:g.4862351G>C	GRCh38
NC_000004.11:g.4864078G>C , CM000666.1:g.4864078G>C	GRCh37
NC_000004.10:g.4914979G>C	NCBI36
NG_008121.1:g.7687G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.470-350G>C MANE Select	ENSP00000372170.4:n.470-350G>C
ENST00000382723.4:c.470-350G>C	ENSP00000372170.4:n.470-350G>C
NM_002448.3:c.470-350G>C MANE Select	NP_002439.2:n.470-350G>C