Canonical Allele Identifier: CA10414173
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs782467443
ExAC: X:49957571 A / C
gnomAD v2: X-49957571-A-C
gnomAD v3: X-50192920-A-C
gnomAD v4: X-50192920-A-C
MyVariant Identifiers: chrX:g.49957571A>C (hg19) chrX:g.50192920A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192920A>C , CM000685.2:g.50192920A>C GRCh38
NC_000023.10:g.49957571A>C , CM000685.1:g.49957571A>C GRCh37
NC_000023.9:g.49844311A>C NCBI36
NG_012552.1:g.13094T>G
NG_012552.2:g.13094T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1793T>G MANE Select ENSP00000351327.2:p.Val598Gly
ENST00000358526.6:c.1793T>G ENSP00000351327.2:p.Val598Gly
ENST00000376064.7:c.1766T>G ENSP00000365232.3:p.Val589Gly
ENST00000481402.5:n.1905T>G
NM_003886.2:c.1793T>G NP_003877.2:p.Val598Gly
NM_139289.1:c.1766T>G NP_647450.1:p.Val589Gly
NM_003886.3:c.1793T>G MANE Select NP_003877.2:p.Val598Gly
NM_139289.2:c.1766T>G NP_647450.1:p.Val589Gly
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