Canonical Allele Identifier: CA413188328

Gene: AKAP4

Linked Data

• dbSNP Id: rs1557203792
• gnomAD v2: X-49957280-T-C
• gnomAD v4: X-50192629-T-C
• MyVariant Identifiers: chrX:g.49957280T>C (hg19) ; chrX:g.50192629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192629T>C , CM000685.2:g.50192629T>C	GRCh38
NC_000023.10:g.49957280T>C , CM000685.1:g.49957280T>C	GRCh37
NC_000023.9:g.49844020T>C	NCBI36
NG_012552.1:g.13385A>G
NG_012552.2:g.13385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2084A>G MANE Select	ENSP00000351327.2:p.Gln695Arg
ENST00000358526.6:c.2084A>G	ENSP00000351327.2:p.Gln695Arg
ENST00000376064.7:c.2057A>G	ENSP00000365232.3:p.Gln686Arg
ENST00000481402.5:n.2196A>G
NM_003886.2:c.2084A>G	NP_003877.2:p.Gln695Arg
NM_139289.1:c.2057A>G	NP_647450.1:p.Gln686Arg
NM_003886.3:c.2084A>G MANE Select	NP_003877.2:p.Gln695Arg
NM_139289.2:c.2057A>G	NP_647450.1:p.Gln686Arg