Canonical Allele Identifier: CA356139119

Gene: MSX1

Linked Data

• dbSNP Id: rs1210750959
• gnomAD v2: 4-4864811-G-T
• MyVariant Identifiers: chr4:g.4864811G>T (hg19) ; chr4:g.4863084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863084G>T , CM000666.2:g.4863084G>T	GRCh38
NC_000004.11:g.4864811G>T , CM000666.1:g.4864811G>T	GRCh37
NC_000004.10:g.4915712G>T	NCBI36
NG_008121.1:g.8420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.853G>T MANE Select	ENSP00000372170.4:p.Val285Leu
ENST00000382723.4:c.853G>T	ENSP00000372170.4:p.Val285Leu
NM_002448.3:c.853G>T MANE Select	NP_002439.2:p.Val285Leu