Canonical Allele Identifier: CA516679123
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1260080362
gnomAD v2: X-49957546-G-A
gnomAD v4: X-50192895-G-A
COSMIC: COSM4660802
MyVariant Identifiers: chrX:g.49957546G>A (hg19) chrX:g.50192895G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192895G>A , CM000685.2:g.50192895G>A GRCh38
NC_000023.10:g.49957546G>A , CM000685.1:g.49957546G>A GRCh37
NC_000023.9:g.49844286G>A NCBI36
NG_012552.1:g.13119C>T
NG_012552.2:g.13119C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1818C>T MANE Select ENSP00000351327.2:p.Ala606=
ENST00000358526.6:c.1818C>T ENSP00000351327.2:p.Ala606=
ENST00000376064.7:c.1791C>T ENSP00000365232.3:p.Ala597=
ENST00000481402.5:n.1930C>T
NM_003886.2:c.1818C>T NP_003877.2:p.Ala606=
NM_139289.1:c.1791C>T NP_647450.1:p.Ala597=
NM_003886.3:c.1818C>T MANE Select NP_003877.2:p.Ala606=
NM_139289.2:c.1791C>T NP_647450.1:p.Ala597=
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