Canonical Allele Identifier: CA356138439
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1254077152
gnomAD v2: 4-4864553-A-G
gnomAD v4: 4-4862826-A-G
MyVariant Identifiers: chr4:g.4864553A>G (hg19) chr4:g.4862826A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862826A>G , CM000666.2:g.4862826A>G GRCh38
NC_000004.11:g.4864553A>G , CM000666.1:g.4864553A>G GRCh37
NC_000004.10:g.4915454A>G NCBI36
NG_008121.1:g.8162A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.595A>G MANE Select ENSP00000372170.4:p.Ile199Val
ENST00000382723.4:c.595A>G ENSP00000372170.4:p.Ile199Val
ENST00000468421.1:n.307A>G
NM_002448.3:c.595A>G MANE Select NP_002439.2:p.Ile199Val
Search 100 bp 5'
Search 100 bp 3'