Canonical Allele Identifier: CA356139135
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1425150458
gnomAD v2: 4-4864815-C-T
gnomAD v4: 4-4863088-C-T
MyVariant Identifiers: chr4:g.4864815C>T (hg19) chr4:g.4863088C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863088C>T , CM000666.2:g.4863088C>T GRCh38
NC_000004.11:g.4864815C>T , CM000666.1:g.4864815C>T GRCh37
NC_000004.10:g.4915716C>T NCBI36
NG_008121.1:g.8424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.857C>T MANE Select ENSP00000372170.4:p.Ala286Val
ENST00000382723.4:c.857C>T ENSP00000372170.4:p.Ala286Val
NM_002448.3:c.857C>T MANE Select NP_002439.2:p.Ala286Val
Search 100 bp 5'
Search 100 bp 3'