Canonical Allele Identifier: CA413187858

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192524-G-A
• COSMIC: COSM3562121
• MyVariant Identifiers: chrX:g.49957175G>A (hg19) ; chrX:g.50192524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192524G>A , CM000685.2:g.50192524G>A	GRCh38
NC_000023.10:g.49957175G>A , CM000685.1:g.49957175G>A	GRCh37
NC_000023.9:g.49843915G>A	NCBI36
NG_012552.1:g.13490C>T
NG_012552.2:g.13490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2189C>T MANE Select	ENSP00000351327.2:p.Ser730Leu
ENST00000358526.6:c.2189C>T	ENSP00000351327.2:p.Ser730Leu
ENST00000376064.7:c.2162C>T	ENSP00000365232.3:p.Ser721Leu
ENST00000481402.5:n.2301C>T
NM_003886.2:c.2189C>T	NP_003877.2:p.Ser730Leu
NM_139289.1:c.2162C>T	NP_647450.1:p.Ser721Leu
NM_003886.3:c.2189C>T MANE Select	NP_003877.2:p.Ser730Leu
NM_139289.2:c.2162C>T	NP_647450.1:p.Ser721Leu