Canonical Allele Identifier: CA91672591
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs893448084
gnomAD v3: 4-4863203-C-G
gnomAD v4: 4-4863203-C-G
MyVariant Identifiers: chr4:g.4864930C>G (hg19) chr4:g.4863203C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863203C>G , CM000666.2:g.4863203C>G GRCh38
NC_000004.11:g.4864930C>G , CM000666.1:g.4864930C>G GRCh37
NC_000004.10:g.4915831C>G NCBI36
NG_008121.1:g.8539C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*60C>G MANE Select ENSP00000372170.4:n.*60C>G
ENST00000382723.4:c.*60C>G ENSP00000372170.4:n.*60C>G
NM_002448.3:c.*60C>G MANE Select NP_002439.2:n.*60C>G
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