Canonical Allele Identifier: CA91672692
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs115200552
gnomAD v2: 4-4864991-G-C
gnomAD v3: 4-4863264-G-C
gnomAD v4: 4-4863264-G-C
MyVariant Identifiers: chr4:g.4864991G>C (hg19) chr4:g.4863264G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863264G>C , CM000666.2:g.4863264G>C GRCh38
NC_000004.11:g.4864991G>C , CM000666.1:g.4864991G>C GRCh37
NC_000004.10:g.4915892G>C NCBI36
NG_008121.1:g.8600G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*121G>C MANE Select ENSP00000372170.4:n.*121G>C
ENST00000382723.4:c.*121G>C ENSP00000372170.4:n.*121G>C
NM_002448.3:c.*121G>C MANE Select NP_002439.2:n.*121G>C
Search 100 bp 5'
Search 100 bp 3'