Canonical Allele Identifier: CA413187137

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192309-C-T
• MyVariant Identifiers: chrX:g.49956960C>T (hg19) ; chrX:g.50192309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192309C>T , CM000685.2:g.50192309C>T	GRCh38
NC_000023.10:g.49956960C>T , CM000685.1:g.49956960C>T	GRCh37
NC_000023.9:g.49843700C>T	NCBI36
NG_012552.1:g.13705G>A
NG_012552.2:g.13705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2404G>A MANE Select	ENSP00000351327.2:p.Glu802Lys
ENST00000358526.6:c.2404G>A	ENSP00000351327.2:p.Glu802Lys
ENST00000376064.7:c.2377G>A	ENSP00000365232.3:p.Glu793Lys
ENST00000481402.5:n.2516G>A
NM_003886.2:c.2404G>A	NP_003877.2:p.Glu802Lys
NM_139289.1:c.2377G>A	NP_647450.1:p.Glu793Lys
NM_003886.3:c.2404G>A MANE Select	NP_003877.2:p.Glu802Lys
NM_139289.2:c.2377G>A	NP_647450.1:p.Glu793Lys