Canonical Allele Identifier: CA10639090
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304644
ClinVar RCV Id: RCV000361732
dbSNP Id: rs7105993
gnomAD v2: 11-44284294-T-C
gnomAD v3: 11-44262744-T-C
gnomAD v4: 11-44262744-T-C
MyVariant Identifiers: chr11:g.44284294T>C (hg19) chr11:g.44262744T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44262744T>C , CM000673.2:g.44262744T>C GRCh38
NC_000011.9:g.44284294T>C , CM000673.1:g.44284294T>C GRCh37
NC_000011.8:g.44240870T>C NCBI36
NG_015809.1:g.52423A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*2110A>G MANE Select ENSP00000498217.1:n.*2110A>G
ENST00000329255.3:c.*2110A>G ENSP00000332744.3:n.*2110A>G
NM_021926.3:c.*2110A>G NP_068745.2:n.*2110A>G
XM_011520265.1:c.*2110A>G XP_011518567.1:n.*2110A>G
XM_011520266.1:c.*2110A>G XP_011518568.1:n.*2110A>G
NM_021926.4:c.*2110A>G MANE Select NP_068745.2:n.*2110A>G
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