Canonical Allele Identifier: CA91672365

Gene: MSX1

Linked Data

• dbSNP Id: rs113829749
• gnomAD v2: 4-4864804-G-C
• gnomAD v3: 4-4863077-G-C
• gnomAD v4: 4-4863077-G-C
• MyVariant Identifiers: chr4:g.4864804G>C (hg19) ; chr4:g.4863077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863077G>C , CM000666.2:g.4863077G>C	GRCh38
NC_000004.11:g.4864804G>C , CM000666.1:g.4864804G>C	GRCh37
NC_000004.10:g.4915705G>C	NCBI36
NG_008121.1:g.8413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.846G>C MANE Select	ENSP00000372170.4:p.Ala282=
ENST00000382723.4:c.846G>C	ENSP00000372170.4:p.Ala282=
NM_002448.3:c.846G>C MANE Select	NP_002439.2:p.Ala282=