Canonical Allele Identifier: CA356138402

Gene: MSX1

Linked Data

• dbSNP Id: rs1235225331
• gnomAD v2: 4-4864537-G-C
• gnomAD v4: 4-4862810-G-C
• MyVariant Identifiers: chr4:g.4864537G>C (hg19) ; chr4:g.4862810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862810G>C , CM000666.2:g.4862810G>C	GRCh38
NC_000004.11:g.4864537G>C , CM000666.1:g.4864537G>C	GRCh37
NC_000004.10:g.4915438G>C	NCBI36
NG_008121.1:g.8146G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.579G>C MANE Select	ENSP00000372170.4:p.Gln193His
ENST00000382723.4:c.579G>C	ENSP00000372170.4:p.Gln193His
ENST00000468421.1:n.291G>C
NM_002448.3:c.579G>C MANE Select	NP_002439.2:p.Gln193His