Canonical Allele Identifier: CA379790329

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 557361
• ClinVar RCV Id: RCV000673493
• dbSNP Id: rs1554905695
• MyVariant Identifiers: chr11:g.17418486C>T (hg19) ; chr11:g.17396939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396939C>T , CM000673.2:g.17396939C>T	GRCh38
NC_000011.9:g.17418486C>T , CM000673.1:g.17418486C>T	GRCh37
NC_000011.8:g.17375062C>T	NCBI36
NG_008867.1:g.84964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3697G>A
ENST00000528374.2:c.687G>A
ENST00000529967.6:n.2435G>A
ENST00000532220.2:n.2344G>A
ENST00000642611.2:n.4311G>A
ENST00000644057.2:n.539G>A
ENST00000645004.2:n.1595G>A
ENST00000682051.1:n.4258G>A
ENST00000682110.1:n.4311G>A
ENST00000682140.1:c.3985+254G>A	ENSP00000507829.1:n.3985+254G>A
ENST00000682185.1:n.5401G>A
ENST00000682204.1:c.*2234G>A	ENSP00000507094.1:n.*2234G>A
ENST00000682215.1:n.4678G>A
ENST00000682288.1:c.*2527G>A	ENSP00000507506.1:n.*2527G>A
ENST00000682442.1:n.4531G>A
ENST00000682528.1:n.4388G>A
ENST00000682673.1:n.4255G>A
ENST00000682805.1:n.4678G>A
ENST00000682965.1:c.*518G>A	ENSP00000508229.1:n.*518G>A
ENST00000683093.1:n.4410G>A
ENST00000683136.1:c.3979G>A	ENSP00000507768.1:p.Ala1327Thr
ENST00000683153.1:n.4353G>A
ENST00000683365.1:n.4413G>A
ENST00000683377.1:n.4311G>A
ENST00000683456.1:c.*1233G>A	ENSP00000508318.1:n.*1233G>A
ENST00000683522.1:n.4311G>A
ENST00000683562.1:c.*2265G>A	ENSP00000508265.1:n.*2265G>A
ENST00000683693.1:n.4758G>A
ENST00000683725.1:c.4096G>A	ENSP00000507496.1:p.Ala1366Thr
ENST00000684010.1:n.4306G>A
ENST00000684157.1:n.4311G>A
ENST00000684253.1:n.4214G>A
ENST00000684288.1:c.*2268G>A	ENSP00000507143.1:n.*2268G>A
ENST00000684313.1:n.3743G>A
ENST00000684332.1:n.4384G>A
ENST00000684371.1:n.4417G>A
ENST00000684404.1:n.4354G>A
ENST00000684442.1:n.4535G>A
ENST00000684555.1:c.*2308G>A	ENSP00000507705.1:n.*2308G>A
ENST00000684571.1:c.3937G>A	ENSP00000506935.1:p.Ala1313Thr
ENST00000684593.1:c.*3801G>A	ENSP00000507005.1:n.*3801G>A
ENST00000684711.1:c.*2492G>A	ENSP00000506841.1:n.*2492G>A
ENST00000302539.9:c.4099G>A	ENSP00000303960.4:p.Ala1367Thr
ENST00000389817.8:c.4096G>A MANE Select	ENSP00000374467.4:p.Ala1366Thr
ENST00000642271.1:c.4093G>A	ENSP00000493749.1:p.Ala1365Thr
ENST00000642579.1:c.2150G>A
ENST00000642611.1:n.4196G>A
ENST00000642902.1:c.3878G>A
ENST00000643260.1:c.4096G>A	ENSP00000494450.1:p.Ala1366Thr
ENST00000643562.1:c.*2218G>A	ENSP00000496124.1:n.*2218G>A
ENST00000643925.1:c.2736G>A
ENST00000644057.1:n.173G>A
ENST00000644484.1:c.*2497G>A	ENSP00000493558.1:n.*2497G>A
ENST00000644675.1:c.*2268G>A	ENSP00000494567.1:n.*2268G>A
ENST00000644757.1:c.*2527G>A	ENSP00000495085.1:n.*2527G>A
ENST00000644772.1:c.4162G>A	ENSP00000494321.1:p.Ala1388Thr
ENST00000645004.1:n.1751G>A
ENST00000645076.1:c.3295G>A
ENST00000645417.1:c.1284G>A
ENST00000645744.1:c.*2876G>A	ENSP00000494564.1:n.*2876G>A
ENST00000645760.1:c.4517G>A
ENST00000645884.1:c.*1379G>A	ENSP00000495516.1:n.*1379G>A
ENST00000646003.1:c.*2198G>A	ENSP00000495259.1:n.*2198G>A
ENST00000646207.1:c.*2933G>A	ENSP00000495025.1:n.*2933G>A
ENST00000646276.1:c.*2515G>A	ENSP00000496070.1:n.*2515G>A
ENST00000646592.1:c.3402G>A
ENST00000646902.1:c.4063G>A	ENSP00000494101.1:p.Ala1355Thr
ENST00000646993.1:c.*2638G>A	ENSP00000493720.1:n.*2638G>A
ENST00000647013.1:c.4102G>A	ENSP00000496741.1:n.4102G>A
ENST00000647015.1:c.3847G>A	ENSP00000495389.1:p.Ala1283Thr
ENST00000647086.1:c.*3682G>A	ENSP00000493677.1:n.*3682G>A
ENST00000647158.1:c.*2383G>A	ENSP00000495744.1:n.*2383G>A
ENST00000302539.8:c.4099G>A	ENSP00000303960.4:p.Ala1367Thr
ENST00000389817.7:c.4096G>A	ENSP00000374467.3:p.Ala1366Thr
ENST00000527905.5:c.*1118G>A	ENSP00000431653.1:n.*1118G>A
ENST00000528374.1:c.578G>A
ENST00000531137.1:n.661G>A
ENST00000531891.1:c.434G>A
ENST00000532220.1:n.570G>A
NM_000352.4:c.4096G>A	NP_000343.2:p.Ala1366Thr
NM_001287174.1:c.4099G>A	NP_001274103.1:p.Ala1367Thr
XM_011520331.1:c.4096G>A	XP_011518633.1:p.Ala1366Thr
XM_011520332.1:c.4099G>A	XP_011518634.1:p.Ala1367Thr
XM_011520333.1:c.2596G>A	XP_011518635.1:p.Ala866Thr
XR_930890.1:n.4162G>A
NM_001351295.1:c.4162G>A	NP_001338224.1:p.Ala1388Thr
NM_001351296.1:c.4096G>A	NP_001338225.1:p.Ala1366Thr
NM_001351297.1:c.4093G>A	NP_001338226.1:p.Ala1365Thr
NR_147094.1:n.4391G>A
XM_017018197.2:c.4165G>A	XP_016873686.1:p.Ala1389Thr
XM_017018199.1:c.4162G>A	XP_016873688.1:p.Ala1388Thr
XM_017018201.2:c.4165G>A	XP_016873690.1:p.Ala1389Thr
XM_017018202.1:c.2662G>A	XP_016873691.1:p.Ala888Thr
XM_017018204.1:c.2053G>A	XP_016873693.1:p.Ala685Thr
XM_024448668.1:c.2464G>A	XP_024304436.1:p.Ala822Thr
XR_001747945.2:n.4237G>A
XR_001747946.2:n.4168G>A
XR_002957189.1:n.4833G>A
NM_000352.6:c.4096G>A MANE Select	NP_000343.2:p.Ala1366Thr
NM_001287174.2:c.4099G>A	NP_001274103.1:p.Ala1367Thr
NM_001351295.2:c.4162G>A	NP_001338224.1:p.Ala1388Thr
NM_001351296.2:c.4096G>A	NP_001338225.1:p.Ala1366Thr
NM_001351297.2:c.4093G>A	NP_001338226.1:p.Ala1365Thr
NR_147094.2:n.4391G>A
NM_001287174.3:c.4099G>A	NP_001274103.1:p.Ala1367Thr