Canonical Allele Identifier: CA91672622
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1095
gnomAD v2: 4-4864938-C-T
gnomAD v3: 4-4863211-C-T
gnomAD v4: 4-4863211-C-T
MyVariant Identifiers: chr4:g.4864938C>T (hg19) chr4:g.4863211C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863211C>T , CM000666.2:g.4863211C>T GRCh38
NC_000004.11:g.4864938C>T , CM000666.1:g.4864938C>T GRCh37
NC_000004.10:g.4915839C>T NCBI36
NG_008121.1:g.8547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*68C>T MANE Select ENSP00000372170.4:n.*68C>T
ENST00000382723.4:c.*68C>T ENSP00000372170.4:n.*68C>T
NM_002448.3:c.*68C>T MANE Select NP_002439.2:n.*68C>T
Search 100 bp 5'
Search 100 bp 3'