Canonical Allele Identifier: CA2579610891

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192291-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192291A>C , CM000685.2:g.50192291A>C	GRCh38
NC_000023.10:g.49956942A>C , CM000685.1:g.49956942A>C	GRCh37
NC_000023.9:g.49843682A>C	NCBI36
NG_012552.1:g.13723T>G
NG_012552.2:g.13723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2409+13T>G MANE Select	ENSP00000351327.2:n.2409+13T>G
ENST00000358526.6:c.2409+13T>G	ENSP00000351327.2:n.2409+13T>G
ENST00000376064.7:c.2382+13T>G	ENSP00000365232.3:n.2382+13T>G
ENST00000481402.5:n.2521+13T>G
NM_003886.2:c.2409+13T>G	NP_003877.2:n.2409+13T>G
NM_139289.1:c.2382+13T>G	NP_647450.1:n.2382+13T>G
NM_003886.3:c.2409+13T>G MANE Select	NP_003877.2:n.2409+13T>G
NM_139289.2:c.2382+13T>G	NP_647450.1:n.2382+13T>G