Canonical Allele Identifier: CA438195510
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737961811
gnomAD v3: 4-4863098-A-C
gnomAD v4: 4-4863098-A-C
MyVariant Identifiers: chr4:g.4864825A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863098A>C , CM000666.2:g.4863098A>C GRCh38
NC_000004.11:g.4864825A>C , CM000666.1:g.4864825A>C GRCh37
NC_000004.10:g.4915726A>C NCBI36
NG_008121.1:g.8434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.867A>C MANE Select ENSP00000372170.4:p.Gly289=
ENST00000382723.4:c.867A>C ENSP00000372170.4:p.Gly289=
NM_002448.3:c.867A>C MANE Select NP_002439.2:p.Gly289=