Canonical Allele Identifier: CA438366450
Gene: MSX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.4864822G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863095G>C , CM000666.2:g.4863095G>C GRCh38
NC_000004.11:g.4864822G>C , CM000666.1:g.4864822G>C GRCh37
NC_000004.10:g.4915723G>C NCBI36
NG_008121.1:g.8431G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.864G>C MANE Select ENSP00000372170.4:p.Val288=
ENST00000382723.4:c.864G>C ENSP00000372170.4:p.Val288=
NM_002448.3:c.864G>C MANE Select NP_002439.2:p.Val288=