Canonical Allele Identifier: CA438195524
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863116-G-A
MyVariant Identifiers: chr4:g.4864843G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863116G>A , CM000666.2:g.4863116G>A GRCh38
NC_000004.11:g.4864843G>A , CM000666.1:g.4864843G>A GRCh37
NC_000004.10:g.4915744G>A NCBI36
NG_008121.1:g.8452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.885G>A MANE Select ENSP00000372170.4:p.Val295=
ENST00000382723.4:c.885G>A ENSP00000372170.4:p.Val295=
NM_002448.3:c.885G>A MANE Select NP_002439.2:p.Val295=