Canonical Allele Identifier: CA10638507
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304618
ClinVar RCV Id: RCV000355942
dbSNP Id: rs748214374
gnomAD v2: 11-44283022-C-T
gnomAD v3: 11-44261472-C-T
gnomAD v4: 11-44261472-C-T
MyVariant Identifiers: chr11:g.44283022C>T (hg19) chr11:g.44261472C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44261472C>T , CM000673.2:g.44261472C>T GRCh38
NC_000011.9:g.44283022C>T , CM000673.1:g.44283022C>T GRCh37
NC_000011.8:g.44239598C>T NCBI36
NG_015809.1:g.53695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*3382G>A MANE Select ENSP00000498217.1:n.*3382G>A
ENST00000329255.3:c.*3382G>A ENSP00000332744.3:n.*3382G>A
NM_021926.3:c.*3382G>A NP_068745.2:n.*3382G>A
XM_011520265.1:c.*3382G>A XP_011518567.1:n.*3382G>A
XM_011520266.1:c.*3382G>A XP_011518568.1:n.*3382G>A
NM_021926.4:c.*3382G>A MANE Select NP_068745.2:n.*3382G>A
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