Canonical Allele Identifier: CA473298485

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418514G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396967G>T , CM000673.2:g.17396967G>T	GRCh38
NC_000011.9:g.17418514G>T , CM000673.1:g.17418514G>T	GRCh37
NC_000011.8:g.17375090G>T	NCBI36
NG_008867.1:g.84936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3669C>A
ENST00000528374.2:c.659C>A
ENST00000529967.6:n.2407C>A
ENST00000532220.2:n.2316C>A
ENST00000642611.2:n.4283C>A
ENST00000644057.2:n.511C>A
ENST00000645004.2:n.1567C>A
ENST00000682051.1:n.4230C>A
ENST00000682110.1:n.4283C>A
ENST00000682140.1:c.3985+226C>A	ENSP00000507829.1:n.3985+226C>A
ENST00000682185.1:n.5373C>A
ENST00000682204.1:c.*2206C>A	ENSP00000507094.1:n.*2206C>A
ENST00000682215.1:n.4650C>A
ENST00000682288.1:c.*2499C>A	ENSP00000507506.1:n.*2499C>A
ENST00000682442.1:n.4503C>A
ENST00000682528.1:n.4360C>A
ENST00000682673.1:n.4227C>A
ENST00000682805.1:n.4650C>A
ENST00000682965.1:c.*490C>A	ENSP00000508229.1:n.*490C>A
ENST00000683093.1:n.4382C>A
ENST00000683136.1:c.3951C>A	ENSP00000507768.1:p.Ser1317=
ENST00000683153.1:n.4325C>A
ENST00000683365.1:n.4385C>A
ENST00000683377.1:n.4283C>A
ENST00000683456.1:c.*1205C>A	ENSP00000508318.1:n.*1205C>A
ENST00000683522.1:n.4283C>A
ENST00000683562.1:c.*2237C>A	ENSP00000508265.1:n.*2237C>A
ENST00000683693.1:n.4730C>A
ENST00000683725.1:c.4068C>A	ENSP00000507496.1:p.Ser1356=
ENST00000684010.1:n.4278C>A
ENST00000684157.1:n.4283C>A
ENST00000684253.1:n.4186C>A
ENST00000684288.1:c.*2240C>A	ENSP00000507143.1:n.*2240C>A
ENST00000684313.1:n.3715C>A
ENST00000684332.1:n.4356C>A
ENST00000684371.1:n.4389C>A
ENST00000684404.1:n.4326C>A
ENST00000684442.1:n.4507C>A
ENST00000684555.1:c.*2280C>A	ENSP00000507705.1:n.*2280C>A
ENST00000684571.1:c.3909C>A	ENSP00000506935.1:p.Ser1303=
ENST00000684593.1:c.*3773C>A	ENSP00000507005.1:n.*3773C>A
ENST00000684711.1:c.*2464C>A	ENSP00000506841.1:n.*2464C>A
ENST00000302539.9:c.4071C>A	ENSP00000303960.4:p.Ser1357=
ENST00000389817.8:c.4068C>A MANE Select	ENSP00000374467.4:p.Ser1356=
ENST00000642271.1:c.4065C>A	ENSP00000493749.1:p.Ser1355=
ENST00000642579.1:c.2122C>A
ENST00000642611.1:n.4168C>A
ENST00000642902.1:c.3850C>A
ENST00000643260.1:c.4068C>A	ENSP00000494450.1:p.Ser1356=
ENST00000643562.1:c.*2190C>A	ENSP00000496124.1:n.*2190C>A
ENST00000643925.1:c.2708C>A
ENST00000644057.1:n.145C>A
ENST00000644484.1:c.*2469C>A	ENSP00000493558.1:n.*2469C>A
ENST00000644675.1:c.*2240C>A	ENSP00000494567.1:n.*2240C>A
ENST00000644757.1:c.*2499C>A	ENSP00000495085.1:n.*2499C>A
ENST00000644772.1:c.4134C>A	ENSP00000494321.1:p.Ser1378=
ENST00000645004.1:n.1723C>A
ENST00000645076.1:c.3267C>A
ENST00000645417.1:c.1256C>A
ENST00000645744.1:c.*2848C>A	ENSP00000494564.1:n.*2848C>A
ENST00000645760.1:c.4489C>A
ENST00000645884.1:c.*1351C>A	ENSP00000495516.1:n.*1351C>A
ENST00000646003.1:c.*2170C>A	ENSP00000495259.1:n.*2170C>A
ENST00000646207.1:c.*2905C>A	ENSP00000495025.1:n.*2905C>A
ENST00000646276.1:c.*2487C>A	ENSP00000496070.1:n.*2487C>A
ENST00000646592.1:c.3374C>A
ENST00000646902.1:c.4035C>A	ENSP00000494101.1:p.Ser1345=
ENST00000646993.1:c.*2610C>A	ENSP00000493720.1:n.*2610C>A
ENST00000647013.1:c.4074C>A	ENSP00000496741.1:n.4074C>A
ENST00000647015.1:c.3819C>A	ENSP00000495389.1:p.Ser1273=
ENST00000647086.1:c.*3654C>A	ENSP00000493677.1:n.*3654C>A
ENST00000647158.1:c.*2355C>A	ENSP00000495744.1:n.*2355C>A
ENST00000302539.8:c.4071C>A	ENSP00000303960.4:p.Ser1357=
ENST00000389817.7:c.4068C>A	ENSP00000374467.3:p.Ser1356=
ENST00000527905.5:c.*1090C>A	ENSP00000431653.1:n.*1090C>A
ENST00000528374.1:c.550C>A
ENST00000531137.1:n.633C>A
ENST00000531891.1:c.406C>A
ENST00000532220.1:n.542C>A
NM_000352.4:c.4068C>A	NP_000343.2:p.Ser1356=
NM_001287174.1:c.4071C>A	NP_001274103.1:p.Ser1357=
XM_011520331.1:c.4068C>A	XP_011518633.1:p.Ser1356=
XM_011520332.1:c.4071C>A	XP_011518634.1:p.Ser1357=
XM_011520333.1:c.2568C>A	XP_011518635.1:p.Ser856=
XR_930890.1:n.4134C>A
NM_001351295.1:c.4134C>A	NP_001338224.1:p.Ser1378=
NM_001351296.1:c.4068C>A	NP_001338225.1:p.Ser1356=
NM_001351297.1:c.4065C>A	NP_001338226.1:p.Ser1355=
NR_147094.1:n.4363C>A
XM_017018197.2:c.4137C>A	XP_016873686.1:p.Ser1379=
XM_017018199.1:c.4134C>A	XP_016873688.1:p.Ser1378=
XM_017018201.2:c.4137C>A	XP_016873690.1:p.Ser1379=
XM_017018202.1:c.2634C>A	XP_016873691.1:p.Ser878=
XM_017018204.1:c.2025C>A	XP_016873693.1:p.Ser675=
XM_024448668.1:c.2436C>A	XP_024304436.1:p.Ser812=
XR_001747945.2:n.4209C>A
XR_001747946.2:n.4140C>A
XR_002957189.1:n.4805C>A
NM_000352.6:c.4068C>A MANE Select	NP_000343.2:p.Ser1356=
NM_001287174.2:c.4071C>A	NP_001274103.1:p.Ser1357=
NM_001351295.2:c.4134C>A	NP_001338224.1:p.Ser1378=
NM_001351296.2:c.4068C>A	NP_001338225.1:p.Ser1356=
NM_001351297.2:c.4065C>A	NP_001338226.1:p.Ser1355=
NR_147094.2:n.4363C>A
NM_001287174.3:c.4071C>A	NP_001274103.1:p.Ser1357=