Canonical Allele Identifier: CA10639089
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304639
ClinVar RCV Id: RCV000391368
dbSNP Id: rs187228888
gnomAD v2: 11-44283926-A-G
gnomAD v3: 11-44262376-A-G
gnomAD v4: 11-44262376-A-G
MyVariant Identifiers: chr11:g.44283926A>G (hg19) chr11:g.44262376A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44262376A>G , CM000673.2:g.44262376A>G GRCh38
NC_000011.9:g.44283926A>G , CM000673.1:g.44283926A>G GRCh37
NC_000011.8:g.44240502A>G NCBI36
NG_015809.1:g.52791T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*2478T>C MANE Select ENSP00000498217.1:n.*2478T>C
ENST00000329255.3:c.*2478T>C ENSP00000332744.3:n.*2478T>C
NM_021926.3:c.*2478T>C NP_068745.2:n.*2478T>C
XM_011520265.1:c.*2478T>C XP_011518567.1:n.*2478T>C
XM_011520266.1:c.*2478T>C XP_011518568.1:n.*2478T>C
NM_021926.4:c.*2478T>C MANE Select NP_068745.2:n.*2478T>C
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