Canonical Allele Identifier: CA413188506
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192666-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192666G>C , CM000685.2:g.50192666G>C GRCh38
NC_000023.10:g.49957317G>C , CM000685.1:g.49957317G>C GRCh37
NC_000023.9:g.49844057G>C NCBI36
NG_012552.1:g.13348C>G
NG_012552.2:g.13348C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2047C>G MANE Select ENSP00000351327.2:p.Leu683Val
ENST00000358526.6:c.2047C>G ENSP00000351327.2:p.Leu683Val
ENST00000376064.7:c.2020C>G ENSP00000365232.3:p.Leu674Val
ENST00000481402.5:n.2159C>G
NM_003886.2:c.2047C>G NP_003877.2:p.Leu683Val
NM_139289.1:c.2020C>G NP_647450.1:p.Leu674Val
NM_003886.3:c.2047C>G MANE Select NP_003877.2:p.Leu683Val
NM_139289.2:c.2020C>G NP_647450.1:p.Leu674Val