Canonical Allele Identifier: CA413188979
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192777-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192777C>T , CM000685.2:g.50192777C>T GRCh38
NC_000023.10:g.49957428C>T , CM000685.1:g.49957428C>T GRCh37
NC_000023.9:g.49844168C>T NCBI36
NG_012552.1:g.13237G>A
NG_012552.2:g.13237G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1936G>A MANE Select ENSP00000351327.2:p.Glu646Lys
ENST00000358526.6:c.1936G>A ENSP00000351327.2:p.Glu646Lys
ENST00000376064.7:c.1909G>A ENSP00000365232.3:p.Glu637Lys
ENST00000481402.5:n.2048G>A
NM_003886.2:c.1936G>A NP_003877.2:p.Glu646Lys
NM_139289.1:c.1909G>A NP_647450.1:p.Glu637Lys
NM_003886.3:c.1936G>A MANE Select NP_003877.2:p.Glu646Lys
NM_139289.2:c.1909G>A NP_647450.1:p.Glu637Lys