Canonical Allele Identifier: CA91672592
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs893448084
gnomAD v2: 4-4864930-C-A
gnomAD v3: 4-4863203-C-A
gnomAD v4: 4-4863203-C-A
MyVariant Identifiers: chr4:g.4864930C>A (hg19) chr4:g.4863203C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863203C>A , CM000666.2:g.4863203C>A GRCh38
NC_000004.11:g.4864930C>A , CM000666.1:g.4864930C>A GRCh37
NC_000004.10:g.4915831C>A NCBI36
NG_008121.1:g.8539C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*60C>A MANE Select ENSP00000372170.4:n.*60C>A
ENST00000382723.4:c.*60C>A ENSP00000372170.4:n.*60C>A
NM_002448.3:c.*60C>A MANE Select NP_002439.2:n.*60C>A
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