Canonical Allele Identifier: CA10638547
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304659
ClinVar RCV Id: RCV000391644
dbSNP Id: rs886048300
gnomAD v2: 11-44284996-C-A
gnomAD v3: 11-44263446-C-A
gnomAD v4: 11-44263446-C-A
MyVariant Identifiers: chr11:g.44284996C>A (hg19) chr11:g.44263446C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44263446C>A , CM000673.2:g.44263446C>A GRCh38
NC_000011.9:g.44284996C>A , CM000673.1:g.44284996C>A GRCh37
NC_000011.8:g.44241572C>A NCBI36
NG_015809.1:g.51721G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.*1408G>T MANE Select ENSP00000498217.1:n.*1408G>T
ENST00000329255.3:c.*1408G>T ENSP00000332744.3:n.*1408G>T
NM_021926.3:c.*1408G>T NP_068745.2:n.*1408G>T
XM_011520265.1:c.*1408G>T XP_011518567.1:n.*1408G>T
XM_011520266.1:c.*1408G>T XP_011518568.1:n.*1408G>T
NM_021926.4:c.*1408G>T MANE Select NP_068745.2:n.*1408G>T
Search 100 bp 5'
Search 100 bp 3'