Canonical Allele Identifier: CA413189517
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1557203865
gnomAD v2: X-49957547-G-A
gnomAD v4: X-50192896-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192896G>A , CM000685.2:g.50192896G>A GRCh38
NC_000023.10:g.49957547G>A , CM000685.1:g.49957547G>A GRCh37
NC_000023.9:g.49844287G>A NCBI36
NG_012552.1:g.13118C>T
NG_012552.2:g.13118C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1817C>T MANE Select ENSP00000351327.2:p.Ala606Val
ENST00000358526.6:c.1817C>T ENSP00000351327.2:p.Ala606Val
ENST00000376064.7:c.1790C>T ENSP00000365232.3:p.Ala597Val
ENST00000481402.5:n.1929C>T
NM_003886.2:c.1817C>T NP_003877.2:p.Ala606Val
NM_139289.1:c.1790C>T NP_647450.1:p.Ala597Val
NM_003886.3:c.1817C>T MANE Select NP_003877.2:p.Ala606Val
NM_139289.2:c.1790C>T NP_647450.1:p.Ala597Val