Canonical Allele Identifier: CA2832952
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 461600
ClinVar RCV Id: RCV000560292
dbSNP Id: rs28933081
ExAC: 4:4861991 G / T
gnomAD v2: 4-4861991-G-T
gnomAD v3: 4-4860264-G-T
gnomAD v4: 4-4860264-G-T
MyVariant Identifiers: chr4:g.4861991G>T (hg19) chr4:g.4860264G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860264G>T , CM000666.2:g.4860264G>T GRCh38
NC_000004.11:g.4861991G>T , CM000666.1:g.4861991G>T GRCh37
NC_000004.10:g.4912892G>T NCBI36
NG_008121.1:g.5600G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.365G>T MANE Select ENSP00000372170.4:p.Gly122Val
ENST00000382723.4:c.365G>T ENSP00000372170.4:p.Gly122Val
NM_002448.3:c.365G>T MANE Select NP_002439.2:p.Gly122Val
Search 100 bp 5'
Search 100 bp 3'