Canonical Allele Identifier: CA4337196

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 263446
• ClinVar RCV Id: RCV000252879 ; RCV000755802 ; RCV001079408 ; RCV001174573 ; RCV002253332
• dbSNP Id: rs141156177
• ExAC: 7:91707165 A / G
• gnomAD v2: 7-91707165-A-G
• gnomAD v3: 7-92077851-A-G
• gnomAD v4: 7-92077851-A-G
• MyVariant Identifiers: chr7:g.91707165A>G (hg19) ; chr7:g.92077851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077851A>G , CM000669.2:g.92077851A>G	GRCh38
NC_000007.13:g.91707165A>G , CM000669.1:g.91707165A>G	GRCh37
NC_000007.12:g.91545101A>G	NCBI36
NG_011623.1:g.141977A>G , LRG_331:g.141977A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6921A>G MANE Select	ENSP00000348573.3:p.Gln2307=
ENST00000359028.7:c.6993A>G	ENSP00000351922.4:p.Gln2331=
ENST00000394534.7:c.414A>G	ENSP00000378042.3:p.Gln138=
ENST00000491695.2:c.1566A>G	ENSP00000494626.2:p.Gln522=
ENST00000674381.2:c.*6650A>G	ENSP00000501536.2:n.*6650A>G
ENST00000679448.1:c.6897A>G	ENSP00000505889.1:p.Gln2299=
ENST00000679457.1:c.6897A>G	ENSP00000505450.1:p.Gln2299=
ENST00000679474.1:n.7119A>G
ENST00000679521.1:c.6867A>G	ENSP00000505456.1:p.Gln2289=
ENST00000679554.1:c.*6706A>G	ENSP00000506415.1:n.*6706A>G
ENST00000679722.1:n.7143A>G
ENST00000679821.1:c.6663A>G	ENSP00000506040.1:p.Gln2221=
ENST00000680047.1:n.7119A>G
ENST00000680072.1:c.6744A>G	ENSP00000506581.1:p.Gln2248=
ENST00000680181.1:c.6828A>G	ENSP00000505548.1:p.Gln2276=
ENST00000680365.1:c.414A>G	ENSP00000506019.1:p.Gln138=
ENST00000680513.1:c.6780A>G	ENSP00000505284.1:p.Gln2260=
ENST00000680534.1:c.6960A>G	ENSP00000506674.1:p.Gln2320=
ENST00000680766.1:c.6897A>G	ENSP00000505204.1:p.Gln2299=
ENST00000680952.1:c.6897A>G	ENSP00000506407.1:p.Gln2299=
ENST00000681216.1:c.414A>G	ENSP00000505551.1:p.Gln138=
ENST00000681412.1:c.6921A>G	ENSP00000506486.1:p.Gln2307=
ENST00000681722.1:c.6897A>G	ENSP00000506566.1:p.Gln2299=
ENST00000356239.7:c.6921A>G	ENSP00000348573.3:p.Gln2307=
ENST00000358100.6:c.6780A>G	ENSP00000350813.3:p.Gln2260=
ENST00000359028.6:c.6954A>G	ENSP00000351922.3:p.Gln2318=
ENST00000394534.6:c.459A>G	ENSP00000378042.2:p.Gln153=
NM_005751.4:c.6921A>G , LRG_331t1:c.6921A>G	NP_005742.4:p.Gln2307=
NM_147185.2:c.6897A>G	NP_671714.1:p.Gln2299=
XM_006715827.1:c.6780A>G	XP_006715890.1:p.Gln2260=
XM_011515709.1:c.7068A>G	XP_011514011.1:p.Gln2356=
XM_011515710.1:c.7092A>G	XP_011514012.1:p.Gln2364=
XM_011515711.1:c.7032A>G	XP_011514013.1:p.Gln2344=
XM_011515712.1:c.7029A>G	XP_011514014.1:p.Gln2343=
XM_011515713.1:c.7014A>G	XP_011514015.1:p.Gln2338=
XM_011515714.1:c.7053A>G	XP_011514016.1:p.Gln2351=
XM_011515716.1:c.6972A>G	XP_011514018.1:p.Gln2324=
XM_011515717.1:c.6927A>G	XP_011514019.1:p.Gln2309=
XM_011515718.1:c.6957A>G	XP_011514020.1:p.Gln2319=
XM_011515719.1:c.6933A>G	XP_011514021.1:p.Gln2311=
XM_011515720.1:c.6816A>G	XP_011514022.1:p.Gln2272=
XM_011515721.1:c.1581A>G	XP_011514023.1:p.Gln527=
XM_011515722.1:c.1542A>G	XP_011514024.1:p.Gln514=
XM_017011642.2:c.7056A>G	XP_016867131.1:p.Gln2352=
XM_017011643.2:c.7017A>G	XP_016867132.1:p.Gln2339=
XM_017011644.2:c.7056A>G	XP_016867133.1:p.Gln2352=
XM_017011645.2:c.7002A>G	XP_016867134.1:p.Gln2334=
XM_017011646.2:c.7017A>G	XP_016867135.1:p.Gln2339=
XM_017011647.2:c.6963A>G	XP_016867136.1:p.Gln2321=
XM_017011648.2:c.6960A>G	XP_016867137.1:p.Gln2320=
XM_017011649.2:c.6993A>G	XP_016867138.1:p.Gln2331=
XM_017011650.2:c.6921A>G	XP_016867139.1:p.Gln2307=
XM_017011651.2:c.6915A>G	XP_016867140.1:p.Gln2305=
XM_017011652.2:c.7056A>G	XP_016867141.1:p.Gln2352=
XM_017011653.2:c.6828A>G	XP_016867142.1:p.Gln2276=
XM_017011654.2:c.6780A>G	XP_016867143.1:p.Gln2260=
XM_017011655.2:c.6684A>G	XP_016867144.1:p.Gln2228=
XM_017011656.2:c.6684A>G	XP_016867145.1:p.Gln2228=
XM_017011657.2:c.2721A>G	XP_016867146.1:p.Gln907=
XM_017011658.2:c.1605A>G	XP_016867147.1:p.Gln535=
XM_017011659.2:c.1566A>G	XP_016867148.1:p.Gln522=
XM_017011660.2:c.1566A>G	XP_016867149.1:p.Gln522=
XM_024446631.1:c.6819A>G	XP_024302399.1:p.Gln2273=
NM_147185.3:c.6897A>G	NP_671714.1:p.Gln2299=
NM_001379277.1:c.1566A>G	NP_001366206.1:p.Gln522=
NM_005751.5:c.6921A>G MANE Select	NP_005742.4:p.Gln2307=