Canonical Allele Identifier: CA413189708

Gene: AKAP4

Linked Data

• dbSNP Id: rs1291716548
• gnomAD v2: X-49957590-T-C
• gnomAD v3: X-50192939-T-C
• gnomAD v4: X-50192939-T-C
• MyVariant Identifiers: chrX:g.49957590T>C (hg19) ; chrX:g.50192939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192939T>C , CM000685.2:g.50192939T>C	GRCh38
NC_000023.10:g.49957590T>C , CM000685.1:g.49957590T>C	GRCh37
NC_000023.9:g.49844330T>C	NCBI36
NG_012552.1:g.13075A>G
NG_012552.2:g.13075A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1774A>G MANE Select	ENSP00000351327.2:p.Ser592Gly
ENST00000358526.6:c.1774A>G	ENSP00000351327.2:p.Ser592Gly
ENST00000376064.7:c.1747A>G	ENSP00000365232.3:p.Ser583Gly
ENST00000448865.5:c.625A>G	ENSP00000402403.1:p.Ser209Gly
ENST00000481402.5:n.1886A>G
NM_003886.2:c.1774A>G	NP_003877.2:p.Ser592Gly
NM_139289.1:c.1747A>G	NP_647450.1:p.Ser583Gly
NM_003886.3:c.1774A>G MANE Select	NP_003877.2:p.Ser592Gly
NM_139289.2:c.1747A>G	NP_647450.1:p.Ser583Gly