Canonical Allele Identifier: CA356137229
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860038-G-C
MyVariant Identifiers: chr4:g.4861765G>C (hg19) chr4:g.4860038G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860038G>C , CM000666.2:g.4860038G>C GRCh38
NC_000004.11:g.4861765G>C , CM000666.1:g.4861765G>C GRCh37
NC_000004.10:g.4912666G>C NCBI36
NG_008121.1:g.5374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.139G>C MANE Select ENSP00000372170.4:p.Glu47Gln
ENST00000382723.4:c.139G>C ENSP00000372170.4:p.Glu47Gln
NM_002448.3:c.139G>C MANE Select NP_002439.2:p.Glu47Gln
Search 100 bp 5'
Search 100 bp 3'