Canonical Allele Identifier: CA2833038

Gene: MSX1

Linked Data

• dbSNP Id: rs183513743
• ExAC: 4:4864377 C / G
• gnomAD v2: 4-4864377-C-G
• gnomAD v3: 4-4862650-C-G
• gnomAD v4: 4-4862650-C-G
• MyVariant Identifiers: chr4:g.4864377C>G (hg19) ; chr4:g.4862650C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862650C>G , CM000666.2:g.4862650C>G	GRCh38
NC_000004.11:g.4864377C>G , CM000666.1:g.4864377C>G	GRCh37
NC_000004.10:g.4915278C>G	NCBI36
NG_008121.1:g.7986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.470-51C>G MANE Select	ENSP00000372170.4:n.470-51C>G
ENST00000382723.4:c.470-51C>G	ENSP00000372170.4:n.470-51C>G
ENST00000468421.1:n.181+42C>G
NM_002448.3:c.470-51C>G MANE Select	NP_002439.2:n.470-51C>G