Canonical Allele Identifier: CA10414174
Gene: AKAP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2300428
ClinVar RCV Id: RCV004152025
dbSNP Id: rs370374358
ExAC: X:49957572 C / T
gnomAD v2: X-49957572-C-T
gnomAD v3: X-50192921-C-T
gnomAD v4: X-50192921-C-T
MyVariant Identifiers: chrX:g.49957572C>T (hg19) chrX:g.50192921C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192921C>T , CM000685.2:g.50192921C>T GRCh38
NC_000023.10:g.49957572C>T , CM000685.1:g.49957572C>T GRCh37
NC_000023.9:g.49844312C>T NCBI36
NG_012552.1:g.13093G>A
NG_012552.2:g.13093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1792G>A MANE Select ENSP00000351327.2:p.Val598Met
ENST00000358526.6:c.1792G>A ENSP00000351327.2:p.Val598Met
ENST00000376064.7:c.1765G>A ENSP00000365232.3:p.Val589Met
ENST00000481402.5:n.1904G>A
NM_003886.2:c.1792G>A NP_003877.2:p.Val598Met
NM_139289.1:c.1765G>A NP_647450.1:p.Val589Met
NM_003886.3:c.1792G>A MANE Select NP_003877.2:p.Val598Met
NM_139289.2:c.1765G>A NP_647450.1:p.Val589Met
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