Canonical Allele Identifier: CA2833013

Gene: MSX1

Linked Data

• dbSNP Id: rs772056439
• ExAC: 4:4864285 G / T
• gnomAD v2: 4-4864285-G-T
• gnomAD v4: 4-4862558-G-T
• MyVariant Identifiers: chr4:g.4864285G>T (hg19) ; chr4:g.4862558G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862558G>T , CM000666.2:g.4862558G>T	GRCh38
NC_000004.11:g.4864285G>T , CM000666.1:g.4864285G>T	GRCh37
NC_000004.10:g.4915186G>T	NCBI36
NG_008121.1:g.7894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.470-143G>T MANE Select	ENSP00000372170.4:n.470-143G>T
ENST00000382723.4:c.470-143G>T	ENSP00000372170.4:n.470-143G>T
ENST00000468421.1:n.131G>T
NM_002448.3:c.470-143G>T MANE Select	NP_002439.2:n.470-143G>T