Canonical Allele Identifier: CA2832953
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3019724
ClinVar RCV Id: RCV003874835
dbSNP Id: rs764296833
ExAC: 4:4861997 T / A
gnomAD v2: 4-4861997-T-A
gnomAD v3: 4-4860270-T-A
gnomAD v4: 4-4860270-T-A
MyVariant Identifiers: chr4:g.4861997T>A (hg19) chr4:g.4860270T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860270T>A , CM000666.2:g.4860270T>A GRCh38
NC_000004.11:g.4861997T>A , CM000666.1:g.4861997T>A GRCh37
NC_000004.10:g.4912898T>A NCBI36
NG_008121.1:g.5606T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.371T>A MANE Select ENSP00000372170.4:p.Leu124His
ENST00000382723.4:c.371T>A ENSP00000372170.4:p.Leu124His
NM_002448.3:c.371T>A MANE Select NP_002439.2:p.Leu124His
Search 100 bp 5'
Search 100 bp 3'