Canonical Allele Identifier: CA356138902

Gene: MSX1

Linked Data

• dbSNP Id: rs766251853
• gnomAD v2: 4-4864766-T-C
• gnomAD v4: 4-4863039-T-C
• MyVariant Identifiers: chr4:g.4864766T>C (hg19) ; chr4:g.4863039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863039T>C , CM000666.2:g.4863039T>C	GRCh38
NC_000004.11:g.4864766T>C , CM000666.1:g.4864766T>C	GRCh37
NC_000004.10:g.4915667T>C	NCBI36
NG_008121.1:g.8375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.808T>C MANE Select	ENSP00000372170.4:p.Ser270Pro
ENST00000382723.4:c.808T>C	ENSP00000372170.4:p.Ser270Pro
NM_002448.3:c.808T>C MANE Select	NP_002439.2:p.Ser270Pro