Canonical Allele Identifier: CA2833067
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2753327
ClinVar RCV Id: RCV003516965 RCV004540722
dbSNP Id: rs779513496
ExAC: 4:4864477 T / C
gnomAD v2: 4-4864477-T-C
gnomAD v3: 4-4862750-T-C
gnomAD v4: 4-4862750-T-C
MyVariant Identifiers: chr4:g.4864477T>C (hg19) chr4:g.4862750T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862750T>C , CM000666.2:g.4862750T>C GRCh38
NC_000004.11:g.4864477T>C , CM000666.1:g.4864477T>C GRCh37
NC_000004.10:g.4915378T>C NCBI36
NG_008121.1:g.8086T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.519T>C MANE Select ENSP00000372170.4:p.Arg173=
ENST00000382723.4:c.519T>C ENSP00000372170.4:p.Arg173=
ENST00000468421.1:n.231T>C
NM_002448.3:c.519T>C MANE Select NP_002439.2:p.Arg173=
Search 100 bp 5'
Search 100 bp 3'