Canonical Allele Identifier: CA91671158
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs548867688
gnomAD v3: 4-4862312-C-G
gnomAD v4: 4-4862312-C-G
MyVariant Identifiers: chr4:g.4864039C>G (hg19) chr4:g.4862312C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862312C>G , CM000666.2:g.4862312C>G GRCh38
NC_000004.11:g.4864039C>G , CM000666.1:g.4864039C>G GRCh37
NC_000004.10:g.4914940C>G NCBI36
NG_008121.1:g.7648C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-389C>G MANE Select ENSP00000372170.4:n.470-389C>G
ENST00000382723.4:c.470-389C>G ENSP00000372170.4:n.470-389C>G
NM_002448.3:c.470-389C>G MANE Select NP_002439.2:n.470-389C>G
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