Canonical Allele Identifier: CA10414150
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs143297000
gnomAD v2: X-49957325-T-C
gnomAD v3: X-50192674-T-C
gnomAD v4: X-50192674-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192674T>C , CM000685.2:g.50192674T>C GRCh38
NC_000023.10:g.49957325T>C , CM000685.1:g.49957325T>C GRCh37
NC_000023.9:g.49844065T>C NCBI36
NG_012552.1:g.13340A>G
NG_012552.2:g.13340A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2039A>G MANE Select ENSP00000351327.2:p.His680Arg
ENST00000358526.6:c.2039A>G ENSP00000351327.2:p.His680Arg
ENST00000376064.7:c.2012A>G ENSP00000365232.3:p.His671Arg
ENST00000481402.5:n.2151A>G
NM_003886.2:c.2039A>G NP_003877.2:p.His680Arg
NM_139289.1:c.2012A>G NP_647450.1:p.His671Arg
NM_003886.3:c.2039A>G MANE Select NP_003877.2:p.His680Arg
NM_139289.2:c.2012A>G NP_647450.1:p.His671Arg