Canonical Allele Identifier: CA549389282
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1304479431
gnomAD v2: 4-4865017-A-C
gnomAD v3: 4-4863290-A-C
gnomAD v4: 4-4863290-A-C
MyVariant Identifiers: chr4:g.4865017A>C (hg19) chr4:g.4863290A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863290A>C , CM000666.2:g.4863290A>C GRCh38
NC_000004.11:g.4865017A>C , CM000666.1:g.4865017A>C GRCh37
NC_000004.10:g.4915918A>C NCBI36
NG_008121.1:g.8626A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*147A>C MANE Select ENSP00000372170.4:n.*147A>C
ENST00000382723.4:c.*147A>C ENSP00000372170.4:n.*147A>C
NM_002448.3:c.*147A>C MANE Select NP_002439.2:n.*147A>C
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