Canonical Allele Identifier: CA91671442
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs970891822
gnomAD v3: 4-4862563-T-G
gnomAD v4: 4-4862563-T-G
MyVariant Identifiers: chr4:g.4864290T>G (hg19) chr4:g.4862563T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862563T>G , CM000666.2:g.4862563T>G GRCh38
NC_000004.11:g.4864290T>G , CM000666.1:g.4864290T>G GRCh37
NC_000004.10:g.4915191T>G NCBI36
NG_008121.1:g.7899T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-138T>G MANE Select ENSP00000372170.4:n.470-138T>G
ENST00000382723.4:c.470-138T>G ENSP00000372170.4:n.470-138T>G
ENST00000468421.1:n.136T>G
NM_002448.3:c.470-138T>G MANE Select NP_002439.2:n.470-138T>G
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