Canonical Allele Identifier: CA356138108

Gene: MSX1

Linked Data

• dbSNP Id: rs1431648315
• gnomAD v2: 4-4862063-T-C
• gnomAD v4: 4-4860336-T-C
• MyVariant Identifiers: chr4:g.4862063T>C (hg19) ; chr4:g.4860336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860336T>C , CM000666.2:g.4860336T>C	GRCh38
NC_000004.11:g.4862063T>C , CM000666.1:g.4862063T>C	GRCh37
NC_000004.10:g.4912964T>C	NCBI36
NG_008121.1:g.5672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.437T>C MANE Select	ENSP00000372170.4:p.Met146Thr
ENST00000382723.4:c.437T>C	ENSP00000372170.4:p.Met146Thr
NM_002448.3:c.437T>C MANE Select	NP_002439.2:p.Met146Thr