Canonical Allele Identifier: CA10639089
Gene: ALX4 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

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