Canonical Allele Identifier: CA2693739759
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192294-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192294C>A , CM000685.2:g.50192294C>A GRCh38
NC_000023.10:g.49956945C>A , CM000685.1:g.49956945C>A GRCh37
NC_000023.9:g.49843685C>A NCBI36
NG_012552.1:g.13720G>T
NG_012552.2:g.13720G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2409+10G>T MANE Select ENSP00000351327.2:n.2409+10G>T
ENST00000358526.6:c.2409+10G>T ENSP00000351327.2:n.2409+10G>T
ENST00000376064.7:c.2382+10G>T ENSP00000365232.3:n.2382+10G>T
ENST00000481402.5:n.2521+10G>T
NM_003886.2:c.2409+10G>T NP_003877.2:n.2409+10G>T
NM_139289.1:c.2382+10G>T NP_647450.1:n.2382+10G>T
NM_003886.3:c.2409+10G>T MANE Select NP_003877.2:n.2409+10G>T
NM_139289.2:c.2382+10G>T NP_647450.1:n.2382+10G>T