Canonical Allele Identifier: CA91672503
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs972365982
gnomAD v2: 4-4864880-G-C
gnomAD v4: 4-4863153-G-C
MyVariant Identifiers: chr4:g.4864880G>C (hg19) chr4:g.4863153G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863153G>C , CM000666.2:g.4863153G>C GRCh38
NC_000004.11:g.4864880G>C , CM000666.1:g.4864880G>C GRCh37
NC_000004.10:g.4915781G>C NCBI36
NG_008121.1:g.8489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*10G>C MANE Select ENSP00000372170.4:n.*10G>C
ENST00000382723.4:c.*10G>C ENSP00000372170.4:n.*10G>C
NM_002448.3:c.*10G>C MANE Select NP_002439.2:n.*10G>C
Search 100 bp 5'
Search 100 bp 3'