Canonical Allele Identifier: CA356137446

Gene: MSX1

Linked Data

• gnomAD v4: 4-4860138-T-C
• MyVariant Identifiers: chr4:g.4861865T>C (hg19) ; chr4:g.4860138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860138T>C , CM000666.2:g.4860138T>C	GRCh38
NC_000004.11:g.4861865T>C , CM000666.1:g.4861865T>C	GRCh37
NC_000004.10:g.4912766T>C	NCBI36
NG_008121.1:g.5474T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.239T>C MANE Select	ENSP00000372170.4:p.Leu80Pro
ENST00000382723.4:c.239T>C	ENSP00000372170.4:p.Leu80Pro
NM_002448.3:c.239T>C MANE Select	NP_002439.2:p.Leu80Pro