Canonical Allele Identifier: CA356138403
Gene: MSX1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.4862810G>T
GRCh37 chr4:g.4864537G>T
Revel Score:
ENST00000382723 (MANE Select) 0.744
gnomAD v2:
4:4864537 G / T
gnomAD v3:
4:4862810 G / T
gnomAD v4:
chr4-4862810-G-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862810G>T , CM000666.2:g.4862810G>T GRCh38
NC_000004.11:g.4864537G>T , CM000666.1:g.4864537G>T GRCh37
NC_000004.10:g.4915438G>T NCBI36
NG_008121.1:g.8146G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.579G>T MANE Select ENSP00000372170.4:p.Gln193His
ENST00000382723.4:c.579G>T ENSP00000372170.4:p.Gln193His
ENST00000468421.1:n.291G>T
NM_002448.3:c.579G>T MANE Select NP_002439.2:p.Gln193His
Search 100 bp 5'
Search 100 bp 3'