Canonical Allele Identifier: CA356138078
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737884000
gnomAD v3: 4-4860322-G-C
gnomAD v4: 4-4860322-G-C
MyVariant Identifiers: chr4:g.4862049G>C (hg19) chr4:g.4860322G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860322G>C , CM000666.2:g.4860322G>C GRCh38
NC_000004.11:g.4862049G>C , CM000666.1:g.4862049G>C GRCh37
NC_000004.10:g.4912950G>C NCBI36
NG_008121.1:g.5658G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.423G>C MANE Select ENSP00000372170.4:p.Glu141Asp
ENST00000382723.4:c.423G>C ENSP00000372170.4:p.Glu141Asp
NM_002448.3:c.423G>C MANE Select NP_002439.2:p.Glu141Asp
Search 100 bp 5'
Search 100 bp 3'