Canonical Allele Identifier: CA356137989
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860290-C-G
MyVariant Identifiers: chr4:g.4862017C>G (hg19) chr4:g.4860290C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860290C>G , CM000666.2:g.4860290C>G GRCh38
NC_000004.11:g.4862017C>G , CM000666.1:g.4862017C>G GRCh37
NC_000004.10:g.4912918C>G NCBI36
NG_008121.1:g.5626C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.391C>G MANE Select ENSP00000372170.4:p.Leu131Val
ENST00000382723.4:c.391C>G ENSP00000372170.4:p.Leu131Val
NM_002448.3:c.391C>G MANE Select NP_002439.2:p.Leu131Val
Search 100 bp 5'
Search 100 bp 3'