Canonical Allele Identifier: CA356137804

Gene: MSX1

Linked Data

• MyVariant Identifiers: chr4:g.4861969C>G (hg19) ; chr4:g.4860242C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860242C>G , CM000666.2:g.4860242C>G	GRCh38
NC_000004.11:g.4861969C>G , CM000666.1:g.4861969C>G	GRCh37
NC_000004.10:g.4912870C>G	NCBI36
NG_008121.1:g.5578C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.343C>G MANE Select	ENSP00000372170.4:p.Leu115Val
ENST00000382723.4:c.343C>G	ENSP00000372170.4:p.Leu115Val
NM_002448.3:c.343C>G MANE Select	NP_002439.2:p.Leu115Val