Canonical Allele Identifier: CA473298580

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418592T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397045T>G , CM000673.2:g.17397045T>G	GRCh38
NC_000011.9:g.17418592T>G , CM000673.1:g.17418592T>G	GRCh37
NC_000011.8:g.17375168T>G	NCBI36
NG_008867.1:g.84858A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3591A>C
ENST00000528374.2:c.581A>C
ENST00000529967.6:n.2329A>C
ENST00000532220.2:n.2238A>C
ENST00000642611.2:n.4205A>C
ENST00000644057.2:n.433A>C
ENST00000645004.2:n.1489A>C
ENST00000682051.1:n.4152A>C
ENST00000682110.1:n.4205A>C
ENST00000682140.1:c.3985+148A>C	ENSP00000507829.1:n.3985+148A>C
ENST00000682185.1:n.5295A>C
ENST00000682204.1:c.*2128A>C	ENSP00000507094.1:n.*2128A>C
ENST00000682215.1:n.4572A>C
ENST00000682288.1:c.*2421A>C	ENSP00000507506.1:n.*2421A>C
ENST00000682442.1:n.4425A>C
ENST00000682528.1:n.4282A>C
ENST00000682673.1:n.4149A>C
ENST00000682805.1:n.4572A>C
ENST00000682965.1:c.*412A>C	ENSP00000508229.1:n.*412A>C
ENST00000683093.1:n.4304A>C
ENST00000683136.1:c.3873A>C	ENSP00000507768.1:p.Ala1291=
ENST00000683153.1:n.4247A>C
ENST00000683365.1:n.4307A>C
ENST00000683377.1:n.4205A>C
ENST00000683456.1:c.*1127A>C	ENSP00000508318.1:n.*1127A>C
ENST00000683522.1:n.4205A>C
ENST00000683562.1:c.*2159A>C	ENSP00000508265.1:n.*2159A>C
ENST00000683693.1:n.4652A>C
ENST00000683725.1:c.3990A>C	ENSP00000507496.1:p.Ala1330=
ENST00000684010.1:n.4200A>C
ENST00000684157.1:n.4205A>C
ENST00000684253.1:n.4108A>C
ENST00000684288.1:c.*2162A>C	ENSP00000507143.1:n.*2162A>C
ENST00000684313.1:n.3637A>C
ENST00000684332.1:n.4278A>C
ENST00000684371.1:n.4311A>C
ENST00000684404.1:n.4248A>C
ENST00000684442.1:n.4429A>C
ENST00000684555.1:c.*2202A>C	ENSP00000507705.1:n.*2202A>C
ENST00000684571.1:c.3831A>C	ENSP00000506935.1:p.Ala1277=
ENST00000684593.1:c.*3695A>C	ENSP00000507005.1:n.*3695A>C
ENST00000684711.1:c.*2386A>C	ENSP00000506841.1:n.*2386A>C
ENST00000302539.9:c.3993A>C	ENSP00000303960.4:p.Ala1331=
ENST00000389817.8:c.3990A>C MANE Select	ENSP00000374467.4:p.Ala1330=
ENST00000642271.1:c.3987A>C	ENSP00000493749.1:p.Ala1329=
ENST00000642579.1:c.2073-29A>C
ENST00000642611.1:n.4090A>C
ENST00000642902.1:c.3772A>C
ENST00000643260.1:c.3990A>C	ENSP00000494450.1:p.Ala1330=
ENST00000643562.1:c.*2112A>C	ENSP00000496124.1:n.*2112A>C
ENST00000643925.1:c.2630A>C
ENST00000644057.1:n.67A>C
ENST00000644484.1:c.*2391A>C	ENSP00000493558.1:n.*2391A>C
ENST00000644675.1:c.*2162A>C	ENSP00000494567.1:n.*2162A>C
ENST00000644757.1:c.*2421A>C	ENSP00000495085.1:n.*2421A>C
ENST00000644772.1:c.4056A>C	ENSP00000494321.1:p.Ala1352=
ENST00000645004.1:n.1645A>C
ENST00000645076.1:c.3189A>C
ENST00000645417.1:c.1178A>C
ENST00000645744.1:c.*2770A>C	ENSP00000494564.1:n.*2770A>C
ENST00000645760.1:c.4411A>C
ENST00000645884.1:c.*1273A>C	ENSP00000495516.1:n.*1273A>C
ENST00000646003.1:c.*2092A>C	ENSP00000495259.1:n.*2092A>C
ENST00000646207.1:c.*2827A>C	ENSP00000495025.1:n.*2827A>C
ENST00000646276.1:c.*2409A>C	ENSP00000496070.1:n.*2409A>C
ENST00000646592.1:c.3296A>C
ENST00000646902.1:c.3986-29A>C	ENSP00000494101.1:n.3986-29A>C
ENST00000646993.1:c.*2532A>C	ENSP00000493720.1:n.*2532A>C
ENST00000647013.1:c.3996A>C	ENSP00000496741.1:n.3996A>C
ENST00000647015.1:c.3741A>C	ENSP00000495389.1:p.Ala1247=
ENST00000647086.1:c.*3605-29A>C	ENSP00000493677.1:n.*3605-29A>C
ENST00000647158.1:c.*2277A>C	ENSP00000495744.1:n.*2277A>C
ENST00000302539.8:c.3993A>C	ENSP00000303960.4:p.Ala1331=
ENST00000389817.7:c.3990A>C	ENSP00000374467.3:p.Ala1330=
ENST00000527905.5:c.*1012A>C	ENSP00000431653.1:n.*1012A>C
ENST00000528374.1:c.472A>C
ENST00000531137.1:n.555A>C
ENST00000531891.1:c.357-29A>C
ENST00000532220.1:n.464A>C
NM_000352.4:c.3990A>C	NP_000343.2:p.Ala1330=
NM_001287174.1:c.3993A>C	NP_001274103.1:p.Ala1331=
XM_011520331.1:c.3990A>C	XP_011518633.1:p.Ala1330=
XM_011520332.1:c.3993A>C	XP_011518634.1:p.Ala1331=
XM_011520333.1:c.2490A>C	XP_011518635.1:p.Ala830=
XR_930890.1:n.4056A>C
NM_001351295.1:c.4056A>C	NP_001338224.1:p.Ala1352=
NM_001351296.1:c.3990A>C	NP_001338225.1:p.Ala1330=
NM_001351297.1:c.3987A>C	NP_001338226.1:p.Ala1329=
NR_147094.1:n.4285A>C
XM_017018197.2:c.4059A>C	XP_016873686.1:p.Ala1353=
XM_017018199.1:c.4056A>C	XP_016873688.1:p.Ala1352=
XM_017018201.2:c.4059A>C	XP_016873690.1:p.Ala1353=
XM_017018202.1:c.2556A>C	XP_016873691.1:p.Ala852=
XM_017018204.1:c.1947A>C	XP_016873693.1:p.Ala649=
XM_024448668.1:c.2358A>C	XP_024304436.1:p.Ala786=
XR_001747945.2:n.4131A>C
XR_001747946.2:n.4062A>C
XR_002957189.1:n.4727A>C
NM_000352.6:c.3990A>C MANE Select	NP_000343.2:p.Ala1330=
NM_001287174.2:c.3993A>C	NP_001274103.1:p.Ala1331=
NM_001351295.2:c.4056A>C	NP_001338224.1:p.Ala1352=
NM_001351296.2:c.3990A>C	NP_001338225.1:p.Ala1330=
NM_001351297.2:c.3987A>C	NP_001338226.1:p.Ala1329=
NR_147094.2:n.4285A>C
NM_001287174.3:c.3993A>C	NP_001274103.1:p.Ala1331=