Canonical Allele Identifier: CA5955560
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 374798
ClinVar RCV Id: RCV000415474 RCV000513863
dbSNP Id: rs186244229
ExAC: 11:44286664 C / T
gnomAD v2: 11-44286664-C-T
gnomAD v3: 11-44265114-C-T
gnomAD v4: 11-44265114-C-T
MyVariant Identifiers: chr11:g.44286664C>T (hg19) chr11:g.44265114C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44265114C>T , CM000673.2:g.44265114C>T GRCh38
NC_000011.9:g.44286664C>T , CM000673.1:g.44286664C>T GRCh37
NC_000011.8:g.44243240C>T NCBI36
NG_015809.1:g.50053G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.976G>A MANE Select ENSP00000498217.1:p.Asp326Asn
ENST00000329255.3:c.976G>A ENSP00000332744.3:p.Asp326Asn
NM_021926.3:c.976G>A NP_068745.2:p.Asp326Asn
XM_011520265.1:c.454G>A XP_011518567.1:p.Asp152Asn
XM_011520266.1:c.454G>A XP_011518568.1:p.Asp152Asn
NM_021926.4:c.976G>A MANE Select NP_068745.2:p.Asp326Asn
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