Canonical Allele Identifier: CA10638511
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304622
ClinVar RCV Id: RCV000270124
dbSNP Id: rs886048286
gnomAD v3: 11-44261742-G-A
gnomAD v4: 11-44261742-G-A
MyVariant Identifiers: chr11:g.44283292G>A (hg19) chr11:g.44261742G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44261742G>A , CM000673.2:g.44261742G>A GRCh38
NC_000011.9:g.44283292G>A , CM000673.1:g.44283292G>A GRCh37
NC_000011.8:g.44239868G>A NCBI36
NG_015809.1:g.53425C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*3112C>T MANE Select ENSP00000498217.1:n.*3112C>T
ENST00000329255.3:c.*3112C>T ENSP00000332744.3:n.*3112C>T
NM_021926.3:c.*3112C>T NP_068745.2:n.*3112C>T
XM_011520265.1:c.*3112C>T XP_011518567.1:n.*3112C>T
XM_011520266.1:c.*3112C>T XP_011518568.1:n.*3112C>T
NM_021926.4:c.*3112C>T MANE Select NP_068745.2:n.*3112C>T
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