Canonical Allele Identifier: CA413189690
Gene: AKAP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2599075
ClinVar RCV Id: RCV004345436
dbSNP Id: rs1486445723
gnomAD v2: X-49957586-G-A
gnomAD v3: X-50192935-G-A
gnomAD v4: X-50192935-G-A
MyVariant Identifiers: chrX:g.49957586G>A (hg19) chrX:g.50192935G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192935G>A , CM000685.2:g.50192935G>A GRCh38
NC_000023.10:g.49957586G>A , CM000685.1:g.49957586G>A GRCh37
NC_000023.9:g.49844326G>A NCBI36
NG_012552.1:g.13079C>T
NG_012552.2:g.13079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1778C>T MANE Select ENSP00000351327.2:p.Ala593Val
ENST00000358526.6:c.1778C>T ENSP00000351327.2:p.Ala593Val
ENST00000376064.7:c.1751C>T ENSP00000365232.3:p.Ala584Val
ENST00000448865.5:c.629C>T ENSP00000402403.1:p.Ala210Val
ENST00000481402.5:n.1890C>T
NM_003886.2:c.1778C>T NP_003877.2:p.Ala593Val
NM_139289.1:c.1751C>T NP_647450.1:p.Ala584Val
NM_003886.3:c.1778C>T MANE Select NP_003877.2:p.Ala593Val
NM_139289.2:c.1751C>T NP_647450.1:p.Ala584Val
Search 100 bp 5'
Search 100 bp 3'