Canonical Allele Identifier: CA10414156
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs12012704
gnomAD v2: X-49957346-G-A
gnomAD v3: X-50192695-G-A
gnomAD v4: X-50192695-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192695G>A , CM000685.2:g.50192695G>A GRCh38
NC_000023.10:g.49957346G>A , CM000685.1:g.49957346G>A GRCh37
NC_000023.9:g.49844086G>A NCBI36
NG_012552.1:g.13319C>T
NG_012552.2:g.13319C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358526.7:c.2018C>T MANE Select ENSP00000351327.2:p.Ala673Val
ENST00000358526.6:c.2018C>T ENSP00000351327.2:p.Ala673Val
ENST00000376064.7:c.1991C>T ENSP00000365232.3:p.Ala664Val
ENST00000481402.5:n.2130C>T
NM_003886.2:c.2018C>T NP_003877.2:p.Ala673Val
NM_139289.1:c.1991C>T NP_647450.1:p.Ala664Val
NM_003886.3:c.2018C>T MANE Select NP_003877.2:p.Ala673Val
NM_139289.2:c.1991C>T NP_647450.1:p.Ala664Val