Canonical Allele Identifier: CA10414183
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs781961150
ExAC: X:49957694 G / A
gnomAD v2: X-49957694-G-A
gnomAD v3: X-50193043-G-A
gnomAD v4: X-50193043-G-A
COSMIC: COSM39817
MyVariant Identifiers: chrX:g.49957694G>A (hg19) chrX:g.50193043G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193043G>A , CM000685.2:g.50193043G>A GRCh38
NC_000023.10:g.49957694G>A , CM000685.1:g.49957694G>A GRCh37
NC_000023.9:g.49844434G>A NCBI36
NG_012552.1:g.12971C>T
NG_012552.2:g.12971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1670C>T MANE Select ENSP00000351327.2:p.Thr557Ile
ENST00000358526.6:c.1670C>T ENSP00000351327.2:p.Thr557Ile
ENST00000376064.7:c.1643C>T ENSP00000365232.3:p.Thr548Ile
ENST00000448865.5:c.542-21C>T ENSP00000402403.1:n.542-21C>T
ENST00000481402.5:n.1782C>T
NM_003886.2:c.1670C>T NP_003877.2:p.Thr557Ile
NM_139289.1:c.1643C>T NP_647450.1:p.Thr548Ile
NM_003886.3:c.1670C>T MANE Select NP_003877.2:p.Thr557Ile
NM_139289.2:c.1643C>T NP_647450.1:p.Thr548Ile
Search 100 bp 5'
Search 100 bp 3'