Canonical Allele Identifier: CA516679841

Gene: AKAP4

Linked Data

• dbSNP Id: rs1268676263
• gnomAD v4: X-50193081-C-A
• MyVariant Identifiers: chrX:g.49957732C>A (hg19) ; chrX:g.50193081C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193081C>A , CM000685.2:g.50193081C>A	GRCh38
NC_000023.10:g.49957732C>A , CM000685.1:g.49957732C>A	GRCh37
NC_000023.9:g.49844472C>A	NCBI36
NG_012552.1:g.12933G>T
NG_012552.2:g.12933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1632G>T MANE Select	ENSP00000351327.2:p.Leu544=
ENST00000358526.6:c.1632G>T	ENSP00000351327.2:p.Leu544=
ENST00000376064.7:c.1605G>T	ENSP00000365232.3:p.Leu535=
ENST00000448865.5:c.542-59G>T	ENSP00000402403.1:n.542-59G>T
ENST00000481402.5:n.1744G>T
NM_003886.2:c.1632G>T	NP_003877.2:p.Leu544=
NM_139289.1:c.1605G>T	NP_647450.1:p.Leu535=
NM_003886.3:c.1632G>T MANE Select	NP_003877.2:p.Leu544=
NM_139289.2:c.1605G>T	NP_647450.1:p.Leu535=