Canonical Allele Identifier: CA2833054

Gene: MSX1

Linked Data

• dbSNP Id: rs781507762
• ExAC: 4:4864430 C / T
• gnomAD v2: 4-4864430-C-T
• gnomAD v3: 4-4862703-C-T
• gnomAD v4: 4-4862703-C-T
• COSMIC: COSM1258014
• MyVariant Identifiers: chr4:g.4864430C>T (hg19) ; chr4:g.4862703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862703C>T , CM000666.2:g.4862703C>T	GRCh38
NC_000004.11:g.4864430C>T , CM000666.1:g.4864430C>T	GRCh37
NC_000004.10:g.4915331C>T	NCBI36
NG_008121.1:g.8039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.472C>T MANE Select	ENSP00000372170.4:p.Arg158Trp
ENST00000382723.4:c.472C>T	ENSP00000372170.4:p.Arg158Trp
ENST00000468421.1:n.184C>T
NM_002448.3:c.472C>T MANE Select	NP_002439.2:p.Arg158Trp