Canonical Allele Identifier: CA2693739755
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192283-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192283G>T , CM000685.2:g.50192283G>T GRCh38
NC_000023.10:g.49956934G>T , CM000685.1:g.49956934G>T GRCh37
NC_000023.9:g.49843674G>T NCBI36
NG_012552.1:g.13731C>A
NG_012552.2:g.13731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2409+21C>A MANE Select ENSP00000351327.2:n.2409+21C>A
ENST00000358526.6:c.2409+21C>A ENSP00000351327.2:n.2409+21C>A
ENST00000376064.7:c.2382+21C>A ENSP00000365232.3:n.2382+21C>A
ENST00000481402.5:n.2521+21C>A
NM_003886.2:c.2409+21C>A NP_003877.2:n.2409+21C>A
NM_139289.1:c.2382+21C>A NP_647450.1:n.2382+21C>A
NM_003886.3:c.2409+21C>A MANE Select NP_003877.2:n.2409+21C>A
NM_139289.2:c.2382+21C>A NP_647450.1:n.2382+21C>A
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