Canonical Allele Identifier: CA413187589

Gene: AKAP4

Linked Data

• dbSNP Id: rs1343993318
• gnomAD v3: X-50192435-T-A
• gnomAD v4: X-50192435-T-A
• MyVariant Identifiers: chrX:g.49957086T>A (hg19) ; chrX:g.50192435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192435T>A , CM000685.2:g.50192435T>A	GRCh38
NC_000023.10:g.49957086T>A , CM000685.1:g.49957086T>A	GRCh37
NC_000023.9:g.49843826T>A	NCBI36
NG_012552.1:g.13579A>T
NG_012552.2:g.13579A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2278A>T MANE Select	ENSP00000351327.2:p.Ile760Phe
ENST00000358526.6:c.2278A>T	ENSP00000351327.2:p.Ile760Phe
ENST00000376064.7:c.2251A>T	ENSP00000365232.3:p.Ile751Phe
ENST00000481402.5:n.2390A>T
NM_003886.2:c.2278A>T	NP_003877.2:p.Ile760Phe
NM_139289.1:c.2251A>T	NP_647450.1:p.Ile751Phe
NM_003886.3:c.2278A>T MANE Select	NP_003877.2:p.Ile760Phe
NM_139289.2:c.2251A>T	NP_647450.1:p.Ile751Phe