Canonical Allele Identifier: CA10639095
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304646
ClinVar RCV Id: RCV000315866
dbSNP Id: rs886048296
gnomAD v2: 11-44284374-C-T
gnomAD v3: 11-44262824-C-T
gnomAD v4: 11-44262824-C-T
MyVariant Identifiers: chr11:g.44284374C>T (hg19) chr11:g.44262824C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44262824C>T , CM000673.2:g.44262824C>T GRCh38
NC_000011.9:g.44284374C>T , CM000673.1:g.44284374C>T GRCh37
NC_000011.8:g.44240950C>T NCBI36
NG_015809.1:g.52343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*2030G>A MANE Select ENSP00000498217.1:n.*2030G>A
ENST00000329255.3:c.*2030G>A ENSP00000332744.3:n.*2030G>A
NM_021926.3:c.*2030G>A NP_068745.2:n.*2030G>A
XM_011520265.1:c.*2030G>A XP_011518567.1:n.*2030G>A
XM_011520266.1:c.*2030G>A XP_011518568.1:n.*2030G>A
NM_021926.4:c.*2030G>A MANE Select NP_068745.2:n.*2030G>A
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