Canonical Allele Identifier: CA356138134

Gene: MSX1

Linked Data

• dbSNP Id: rs1737885237
• gnomAD v3: 4-4860348-G-T
• gnomAD v4: 4-4860348-G-T
• MyVariant Identifiers: chr4:g.4862075G>T (hg19) ; chr4:g.4860348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860348G>T , CM000666.2:g.4860348G>T	GRCh38
NC_000004.11:g.4862075G>T , CM000666.1:g.4862075G>T	GRCh37
NC_000004.10:g.4912976G>T	NCBI36
NG_008121.1:g.5684G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.449G>T MANE Select	ENSP00000372170.4:p.Arg150Leu
ENST00000382723.4:c.449G>T	ENSP00000372170.4:p.Arg150Leu
NM_002448.3:c.449G>T MANE Select	NP_002439.2:p.Arg150Leu