Canonical Allele Identifier: CA413190174

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957697A>C (hg19) ; chrX:g.50193046A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1667T>G MANE Select	ENSP00000351327.2:p.Leu556Arg
ENST00000358526.6:c.1667T>G	ENSP00000351327.2:p.Leu556Arg
ENST00000376064.7:c.1640T>G	ENSP00000365232.3:p.Leu547Arg
ENST00000448865.5:c.542-24T>G	ENSP00000402403.1:n.542-24T>G
ENST00000481402.5:n.1779T>G
NM_003886.2:c.1667T>G	NP_003877.2:p.Leu556Arg
NM_139289.1:c.1640T>G	NP_647450.1:p.Leu547Arg
NM_003886.3:c.1667T>G MANE Select	NP_003877.2:p.Leu556Arg
NM_139289.2:c.1640T>G	NP_647450.1:p.Leu547Arg