Canonical Allele Identifier: CA356139154

Gene: MSX1

Linked Data

• dbSNP Id: rs1183331676
• gnomAD v2: 4-4864820-G-C
• gnomAD v4: 4-4863093-G-C
• MyVariant Identifiers: chr4:g.4864820G>C (hg19) ; chr4:g.4863093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863093G>C , CM000666.2:g.4863093G>C	GRCh38
NC_000004.11:g.4864820G>C , CM000666.1:g.4864820G>C	GRCh37
NC_000004.10:g.4915721G>C	NCBI36
NG_008121.1:g.8429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.862G>C MANE Select	ENSP00000372170.4:p.Val288Leu
ENST00000382723.4:c.862G>C	ENSP00000372170.4:p.Val288Leu
NM_002448.3:c.862G>C MANE Select	NP_002439.2:p.Val288Leu