Canonical Allele Identifier: CA2833118
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2534963
ClinVar RCV Id: RCV003256015
dbSNP Id: rs376516578
ExAC: 4:4864754 G / T
gnomAD v2: 4-4864754-G-T
gnomAD v3: 4-4863027-G-T
gnomAD v4: 4-4863027-G-T
MyVariant Identifiers: chr4:g.4864754G>T (hg19) chr4:g.4863027G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863027G>T , CM000666.2:g.4863027G>T GRCh38
NC_000004.11:g.4864754G>T , CM000666.1:g.4864754G>T GRCh37
NC_000004.10:g.4915655G>T NCBI36
NG_008121.1:g.8363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.796G>T MANE Select ENSP00000372170.4:p.Ala266Ser
ENST00000382723.4:c.796G>T ENSP00000372170.4:p.Ala266Ser
ENST00000468421.1:n.508G>T
NM_002448.3:c.796G>T MANE Select NP_002439.2:p.Ala266Ser
Search 100 bp 5'
Search 100 bp 3'