Canonical Allele Identifier: CA2833071
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420915
ClinVar RCV Id: RCV003122080
dbSNP Id: rs370243708
ExAC: 4:4864503 C / T
gnomAD v2: 4-4864503-C-T
gnomAD v3: 4-4862776-C-T
gnomAD v4: 4-4862776-C-T
MyVariant Identifiers: chr4:g.4864503C>T (hg19) chr4:g.4862776C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862776C>T , CM000666.2:g.4862776C>T GRCh38
NC_000004.11:g.4864503C>T , CM000666.1:g.4864503C>T GRCh37
NC_000004.10:g.4915404C>T NCBI36
NG_008121.1:g.8112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.545C>T MANE Select ENSP00000372170.4:p.Ala182Val
ENST00000382723.4:c.545C>T ENSP00000372170.4:p.Ala182Val
ENST00000468421.1:n.257C>T
NM_002448.3:c.545C>T MANE Select NP_002439.2:p.Ala182Val
Search 100 bp 5'
Search 100 bp 3'