Canonical Allele Identifier: CA5955635
Gene: ALX4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.44267633C>T
GRCh37 chr11:g.44289183C>T
gnomAD v2:
11:44289183 C / T
gnomAD v3:
11:44267633 C / T
gnomAD v4:
chr11-44267633-C-T
Joint Max Group AF 0.13054356 (SAS)
Genomes Max Group AF 0.12471923 (SAS)
Exomes Max Group AF 0.13044792 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44267633C>T , CM000673.2:g.44267633C>T GRCh38
NC_000011.9:g.44289183C>T , CM000673.1:g.44289183C>T GRCh37
NC_000011.8:g.44245759C>T NCBI36
NG_015809.1:g.47534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.778-11G>A MANE Select ENSP00000498217.1:n.778-11G>A
ENST00000329255.3:c.778-11G>A ENSP00000332744.3:n.778-11G>A
NM_021926.3:c.778-11G>A NP_068745.2:n.778-11G>A
XM_011520265.1:c.256-11G>A XP_011518567.1:n.256-11G>A
XM_011520266.1:c.256-11G>A XP_011518568.1:n.256-11G>A
NM_021926.4:c.778-11G>A MANE Select NP_068745.2:n.778-11G>A
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