Canonical Allele Identifier: CA413190177

Gene: AKAP4

Linked Data

• dbSNP Id: rs1389868586
• gnomAD v2: X-49957697-A-G
• gnomAD v3: X-50193046-A-G
• gnomAD v4: X-50193046-A-G
• MyVariant Identifiers: chrX:g.49957697A>G (hg19) ; chrX:g.50193046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193046A>G , CM000685.2:g.50193046A>G	GRCh38
NC_000023.10:g.49957697A>G , CM000685.1:g.49957697A>G	GRCh37
NC_000023.9:g.49844437A>G	NCBI36
NG_012552.1:g.12968T>C
NG_012552.2:g.12968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1667T>C MANE Select	ENSP00000351327.2:p.Leu556Pro
ENST00000358526.6:c.1667T>C	ENSP00000351327.2:p.Leu556Pro
ENST00000376064.7:c.1640T>C	ENSP00000365232.3:p.Leu547Pro
ENST00000448865.5:c.542-24T>C	ENSP00000402403.1:n.542-24T>C
ENST00000481402.5:n.1779T>C
NM_003886.2:c.1667T>C	NP_003877.2:p.Leu556Pro
NM_139289.1:c.1640T>C	NP_647450.1:p.Leu547Pro
NM_003886.3:c.1667T>C MANE Select	NP_003877.2:p.Leu556Pro
NM_139289.2:c.1640T>C	NP_647450.1:p.Leu547Pro