Canonical Allele Identifier: CA2833147
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs376130060
ExAC: 4:4864874 G / A
gnomAD v2: 4-4864874-G-A
gnomAD v3: 4-4863147-G-A
gnomAD v4: 4-4863147-G-A
MyVariant Identifiers: chr4:g.4864874G>A (hg19) chr4:g.4863147G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863147G>A , CM000666.2:g.4863147G>A GRCh38
NC_000004.11:g.4864874G>A , CM000666.1:g.4864874G>A GRCh37
NC_000004.10:g.4915775G>A NCBI36
NG_008121.1:g.8483G>A

Transcript Alleles

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