Canonical Allele Identifier: CA11677030
Gene: MSX1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.4862018C>A
GRCh37 chr4:g.4863745C>A
gnomAD v2:
4:4863745 C / A
gnomAD v3:
4:4862018 C / A
gnomAD v4:
chr4-4862018-C-A
Joint Max Group AF 0.58199059 (EAS)
Genomes Max Group AF 0.58199059 (EAS)
dbSNP:
3775261
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862018C>A , CM000666.2:g.4862018C>A GRCh38
NC_000004.11:g.4863745C>A , CM000666.1:g.4863745C>A GRCh37
NC_000004.10:g.4914646C>A NCBI36
NG_008121.1:g.7354C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-683C>A MANE Select ENSP00000372170.4:n.470-683C>A
ENST00000382723.4:c.470-683C>A ENSP00000372170.4:n.470-683C>A
NM_002448.3:c.470-683C>A MANE Select NP_002439.2:n.470-683C>A
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