Canonical Allele Identifier: CA438365840

Gene: MSX1

Linked Data

• dbSNP Id: rs1467749786
• gnomAD v2: 4-4861968-G-A
• gnomAD v4: 4-4860241-G-A
• MyVariant Identifiers: chr4:g.4861968G>A (hg19) ; chr4:g.4860241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860241G>A , CM000666.2:g.4860241G>A	GRCh38
NC_000004.11:g.4861968G>A , CM000666.1:g.4861968G>A	GRCh37
NC_000004.10:g.4912869G>A	NCBI36
NG_008121.1:g.5577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.342G>A MANE Select	ENSP00000372170.4:p.Pro114=
ENST00000382723.4:c.342G>A	ENSP00000372170.4:p.Pro114=
NM_002448.3:c.342G>A MANE Select	NP_002439.2:p.Pro114=