Canonical Allele Identifier: CA413188248

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957263C>T (hg19) ; chrX:g.50192612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192612C>T , CM000685.2:g.50192612C>T	GRCh38
NC_000023.10:g.49957263C>T , CM000685.1:g.49957263C>T	GRCh37
NC_000023.9:g.49844003C>T	NCBI36
NG_012552.1:g.13402G>A
NG_012552.2:g.13402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2101G>A MANE Select	ENSP00000351327.2:p.Val701Ile
ENST00000358526.6:c.2101G>A	ENSP00000351327.2:p.Val701Ile
ENST00000376064.7:c.2074G>A	ENSP00000365232.3:p.Val692Ile
ENST00000481402.5:n.2213G>A
NM_003886.2:c.2101G>A	NP_003877.2:p.Val701Ile
NM_139289.1:c.2074G>A	NP_647450.1:p.Val692Ile
NM_003886.3:c.2101G>A MANE Select	NP_003877.2:p.Val701Ile
NM_139289.2:c.2074G>A	NP_647450.1:p.Val692Ile