Canonical Allele Identifier: CA10414115
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs199856291
ExAC: X:49956987 A / G
gnomAD v2: X-49956987-A-G
gnomAD v3: X-50192336-A-G
gnomAD v4: X-50192336-A-G
MyVariant Identifiers: chrX:g.49956987A>G (hg19) chrX:g.50192336A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192336A>G , CM000685.2:g.50192336A>G GRCh38
NC_000023.10:g.49956987A>G , CM000685.1:g.49956987A>G GRCh37
NC_000023.9:g.49843727A>G NCBI36
NG_012552.1:g.13678T>C
NG_012552.2:g.13678T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2377T>C MANE Select ENSP00000351327.2:p.Phe793Leu
ENST00000358526.6:c.2377T>C ENSP00000351327.2:p.Phe793Leu
ENST00000376064.7:c.2350T>C ENSP00000365232.3:p.Phe784Leu
ENST00000481402.5:n.2489T>C
NM_003886.2:c.2377T>C NP_003877.2:p.Phe793Leu
NM_139289.1:c.2350T>C NP_647450.1:p.Phe784Leu
NM_003886.3:c.2377T>C MANE Select NP_003877.2:p.Phe793Leu
NM_139289.2:c.2350T>C NP_647450.1:p.Phe784Leu
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