Canonical Allele Identifier: CA356137810

Gene: MSX1

Linked Data

• gnomAD v4: 4-4860243-T-C
• MyVariant Identifiers: chr4:g.4861970T>C (hg19) ; chr4:g.4860243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860243T>C , CM000666.2:g.4860243T>C	GRCh38
NC_000004.11:g.4861970T>C , CM000666.1:g.4861970T>C	GRCh37
NC_000004.10:g.4912871T>C	NCBI36
NG_008121.1:g.5579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.344T>C MANE Select	ENSP00000372170.4:p.Leu115Pro
ENST00000382723.4:c.344T>C	ENSP00000372170.4:p.Leu115Pro
NM_002448.3:c.344T>C MANE Select	NP_002439.2:p.Leu115Pro