Canonical Allele Identifier: CA356139115
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3212881
ClinVar RCV Id: RCV004503801
dbSNP Id: rs1210750959
gnomAD v2: 4-4864811-G-A
gnomAD v4: 4-4863084-G-A
MyVariant Identifiers: chr4:g.4864811G>A (hg19) chr4:g.4863084G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863084G>A , CM000666.2:g.4863084G>A GRCh38
NC_000004.11:g.4864811G>A , CM000666.1:g.4864811G>A GRCh37
NC_000004.10:g.4915712G>A NCBI36
NG_008121.1:g.8420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.853G>A MANE Select ENSP00000372170.4:p.Val285Met
ENST00000382723.4:c.853G>A ENSP00000372170.4:p.Val285Met
NM_002448.3:c.853G>A MANE Select NP_002439.2:p.Val285Met
Search 100 bp 5'
Search 100 bp 3'