Canonical Allele Identifier: CA549389255
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1228729660
gnomAD v2: 4-4864912-A-C
gnomAD v4: 4-4863185-A-C
MyVariant Identifiers: chr4:g.4864912A>C (hg19) chr4:g.4863185A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863185A>C , CM000666.2:g.4863185A>C GRCh38
NC_000004.11:g.4864912A>C , CM000666.1:g.4864912A>C GRCh37
NC_000004.10:g.4915813A>C NCBI36
NG_008121.1:g.8521A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*42A>C MANE Select ENSP00000372170.4:n.*42A>C
ENST00000382723.4:c.*42A>C ENSP00000372170.4:n.*42A>C
NM_002448.3:c.*42A>C MANE Select NP_002439.2:n.*42A>C
Search 100 bp 5'
Search 100 bp 3'