Canonical Allele Identifier: CA10634883
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304665
ClinVar RCV Id: RCV000274057
dbSNP Id: rs886048302
gnomAD v2: 11-44285247-G-T
gnomAD v3: 11-44263697-G-T
gnomAD v4: 11-44263697-G-T
MyVariant Identifiers: chr11:g.44285247G>T (hg19) chr11:g.44263697G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44263697G>T , CM000673.2:g.44263697G>T GRCh38
NC_000011.9:g.44285247G>T , CM000673.1:g.44285247G>T GRCh37
NC_000011.8:g.44241823G>T NCBI36
NG_015809.1:g.51470C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*1157C>A MANE Select ENSP00000498217.1:n.*1157C>A
ENST00000329255.3:c.*1157C>A ENSP00000332744.3:n.*1157C>A
NM_021926.3:c.*1157C>A NP_068745.2:n.*1157C>A
XM_011520265.1:c.*1157C>A XP_011518567.1:n.*1157C>A
XM_011520266.1:c.*1157C>A XP_011518568.1:n.*1157C>A
NM_021926.4:c.*1157C>A MANE Select NP_068745.2:n.*1157C>A
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