Canonical Allele Identifier: CA413189029
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1557203846
gnomAD v2: X-49957439-G-C
gnomAD v4: X-50192788-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192788G>C , CM000685.2:g.50192788G>C GRCh38
NC_000023.10:g.49957439G>C , CM000685.1:g.49957439G>C GRCh37
NC_000023.9:g.49844179G>C NCBI36
NG_012552.1:g.13226C>G
NG_012552.2:g.13226C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1925C>G MANE Select ENSP00000351327.2:p.Pro642Arg
ENST00000358526.6:c.1925C>G ENSP00000351327.2:p.Pro642Arg
ENST00000376064.7:c.1898C>G ENSP00000365232.3:p.Pro633Arg
ENST00000481402.5:n.2037C>G
NM_003886.2:c.1925C>G NP_003877.2:p.Pro642Arg
NM_139289.1:c.1898C>G NP_647450.1:p.Pro633Arg
NM_003886.3:c.1925C>G MANE Select NP_003877.2:p.Pro642Arg
NM_139289.2:c.1898C>G NP_647450.1:p.Pro633Arg