Canonical Allele Identifier: CA413189442

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192877-A-C
• MyVariant Identifiers: chrX:g.49957528A>C (hg19) ; chrX:g.50192877A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192877A>C , CM000685.2:g.50192877A>C	GRCh38
NC_000023.10:g.49957528A>C , CM000685.1:g.49957528A>C	GRCh37
NC_000023.9:g.49844268A>C	NCBI36
NG_012552.1:g.13137T>G
NG_012552.2:g.13137T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1836T>G MANE Select	ENSP00000351327.2:p.Cys612Trp
ENST00000358526.6:c.1836T>G	ENSP00000351327.2:p.Cys612Trp
ENST00000376064.7:c.1809T>G	ENSP00000365232.3:p.Cys603Trp
ENST00000481402.5:n.1948T>G
NM_003886.2:c.1836T>G	NP_003877.2:p.Cys612Trp
NM_139289.1:c.1809T>G	NP_647450.1:p.Cys603Trp
NM_003886.3:c.1836T>G MANE Select	NP_003877.2:p.Cys612Trp
NM_139289.2:c.1809T>G	NP_647450.1:p.Cys603Trp