Canonical Allele Identifier: CA356137775

Gene: MSX1

Linked Data

• gnomAD v4: 4-4860234-C-A
• MyVariant Identifiers: chr4:g.4861961C>A (hg19) ; chr4:g.4860234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860234C>A , CM000666.2:g.4860234C>A	GRCh38
NC_000004.11:g.4861961C>A , CM000666.1:g.4861961C>A	GRCh37
NC_000004.10:g.4912862C>A	NCBI36
NG_008121.1:g.5570C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.335C>A MANE Select	ENSP00000372170.4:p.Pro112Gln
ENST00000382723.4:c.335C>A	ENSP00000372170.4:p.Pro112Gln
NM_002448.3:c.335C>A MANE Select	NP_002439.2:p.Pro112Gln