Canonical Allele Identifier: CA2833133
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 800248
ClinVar RCV Id: RCV000983935
dbSNP Id: rs62636562
ExAC: 4:4864779 C / T
gnomAD v2: 4-4864779-C-T
gnomAD v3: 4-4863052-C-T
gnomAD v4: 4-4863052-C-T
MyVariant Identifiers: chr4:g.4864779C>T (hg19) chr4:g.4863052C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863052C>T , CM000666.2:g.4863052C>T GRCh38
NC_000004.11:g.4864779C>T , CM000666.1:g.4864779C>T GRCh37
NC_000004.10:g.4915680C>T NCBI36
NG_008121.1:g.8388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.821C>T MANE Select ENSP00000372170.4:p.Ala274Val
ENST00000382723.4:c.821C>T ENSP00000372170.4:p.Ala274Val
NM_002448.3:c.821C>T MANE Select NP_002439.2:p.Ala274Val
Search 100 bp 5'
Search 100 bp 3'