Canonical Allele Identifier: CA658043649
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192289-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192289T>C , CM000685.2:g.50192289T>C GRCh38
NC_000023.10:g.49956940T>C , CM000685.1:g.49956940T>C GRCh37
NC_000023.9:g.49843680T>C NCBI36
NG_012552.1:g.13725A>G
NG_012552.2:g.13725A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2409+15A>G MANE Select ENSP00000351327.2:n.2409+15A>G
ENST00000358526.6:c.2409+15A>G ENSP00000351327.2:n.2409+15A>G
ENST00000376064.7:c.2382+15A>G ENSP00000365232.3:n.2382+15A>G
ENST00000481402.5:n.2521+15A>G
NM_003886.2:c.2409+15A>G NP_003877.2:n.2409+15A>G
NM_139289.1:c.2382+15A>G NP_647450.1:n.2382+15A>G
NM_003886.3:c.2409+15A>G MANE Select NP_003877.2:n.2409+15A>G
NM_139289.2:c.2382+15A>G NP_647450.1:n.2382+15A>G