Canonical Allele Identifier: CA10414158

Gene: AKAP4

Linked Data

• dbSNP Id: rs782020421
• ExAC: X:49957360 G / C
• gnomAD v2: X-49957360-G-C
• gnomAD v4: X-50192709-G-C
• MyVariant Identifiers: chrX:g.49957360G>C (hg19) ; chrX:g.50192709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192709G>C , CM000685.2:g.50192709G>C	GRCh38
NC_000023.10:g.49957360G>C , CM000685.1:g.49957360G>C	GRCh37
NC_000023.9:g.49844100G>C	NCBI36
NG_012552.1:g.13305C>G
NG_012552.2:g.13305C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358526.7:c.2004C>G MANE Select	ENSP00000351327.2:p.Asn668Lys
ENST00000358526.6:c.2004C>G	ENSP00000351327.2:p.Asn668Lys
ENST00000376064.7:c.1977C>G	ENSP00000365232.3:p.Asn659Lys
ENST00000481402.5:n.2116C>G
NM_003886.2:c.2004C>G	NP_003877.2:p.Asn668Lys
NM_139289.1:c.1977C>G	NP_647450.1:p.Asn659Lys
NM_003886.3:c.2004C>G MANE Select	NP_003877.2:p.Asn668Lys
NM_139289.2:c.1977C>G	NP_647450.1:p.Asn659Lys