Canonical Allele Identifier: CA379787259

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395704-C-A
• MyVariant Identifiers: chr11:g.17417251C>A (hg19) ; chr11:g.17395704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395704C>A , CM000673.2:g.17395704C>A	GRCh38
NC_000011.9:g.17417251C>A , CM000673.1:g.17417251C>A	GRCh37
NC_000011.8:g.17373827C>A	NCBI36
NG_008867.1:g.86199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3814G>T
ENST00000528374.2:c.804G>T
ENST00000529967.6:n.2552G>T
ENST00000532220.2:n.3446G>T
ENST00000642611.2:n.5546G>T
ENST00000644057.2:n.789G>T
ENST00000645004.2:n.1712G>T
ENST00000682051.1:n.4375G>T
ENST00000682110.1:n.4428G>T
ENST00000682140.1:c.4079G>T	ENSP00000507829.1:p.Ter1360Leu
ENST00000682185.1:n.5518G>T
ENST00000682204.1:c.*2351G>T	ENSP00000507094.1:n.*2351G>T
ENST00000682215.1:n.4795G>T
ENST00000682288.1:c.*2644G>T	ENSP00000507506.1:n.*2644G>T
ENST00000682442.1:n.4648G>T
ENST00000682528.1:n.4505G>T
ENST00000682673.1:n.4372G>T
ENST00000682805.1:n.4833G>T
ENST00000682965.1:c.*635G>T	ENSP00000508229.1:n.*635G>T
ENST00000683093.1:n.5512G>T
ENST00000683136.1:c.4096G>T	ENSP00000507768.1:p.Asp1366Tyr
ENST00000683153.1:n.4470G>T
ENST00000683365.1:n.4530G>T
ENST00000683377.1:n.4428G>T
ENST00000683456.1:c.*1350G>T	ENSP00000508318.1:n.*1350G>T
ENST00000683522.1:n.4428G>T
ENST00000683562.1:c.*2382G>T	ENSP00000508265.1:n.*2382G>T
ENST00000683693.1:n.5993G>T
ENST00000683725.1:c.4213G>T	ENSP00000507496.1:p.Asp1405Tyr
ENST00000684010.1:n.4423G>T
ENST00000684157.1:n.5413G>T
ENST00000684253.1:n.4331G>T
ENST00000684288.1:c.*2385G>T	ENSP00000507143.1:n.*2385G>T
ENST00000684313.1:n.3860G>T
ENST00000684332.1:n.4501G>T
ENST00000684371.1:n.4534G>T
ENST00000684404.1:n.5456G>T
ENST00000684442.1:n.4652G>T
ENST00000684555.1:c.*2425G>T	ENSP00000507705.1:n.*2425G>T
ENST00000684571.1:c.4054G>T	ENSP00000506935.1:p.Asp1352Tyr
ENST00000684593.1:c.*3918G>T	ENSP00000507005.1:n.*3918G>T
ENST00000684711.1:c.*2609G>T	ENSP00000506841.1:n.*2609G>T
ENST00000302539.9:c.4216G>T	ENSP00000303960.4:p.Asp1406Tyr
ENST00000389817.8:c.4213G>T MANE Select	ENSP00000374467.4:p.Asp1405Tyr
ENST00000642271.1:c.4210G>T	ENSP00000493749.1:p.Asp1404Tyr
ENST00000642579.1:c.2267G>T
ENST00000642611.1:n.5431G>T
ENST00000642902.1:c.3995G>T
ENST00000643260.1:c.4213G>T	ENSP00000494450.1:p.Asp1405Tyr
ENST00000643562.1:c.*2335G>T	ENSP00000496124.1:n.*2335G>T
ENST00000643925.1:c.2853G>T
ENST00000644057.1:n.290G>T
ENST00000644484.1:c.*3599G>T	ENSP00000493558.1:n.*3599G>T
ENST00000644675.1:c.*2385G>T	ENSP00000494567.1:n.*2385G>T
ENST00000644757.1:c.*3202+560G>T	ENSP00000495085.1:n.*3202+560G>T
ENST00000644772.1:c.4279G>T	ENSP00000494321.1:p.Asp1427Tyr
ENST00000645004.1:n.1906G>T
ENST00000645076.1:c.3412G>T
ENST00000645417.1:c.1401G>T
ENST00000645744.1:c.*3964-66G>T	ENSP00000494564.1:n.*3964-66G>T
ENST00000645760.1:c.4634G>T
ENST00000645884.1:c.*1496G>T	ENSP00000495516.1:n.*1496G>T
ENST00000646003.1:c.*2301-66G>T	ENSP00000495259.1:n.*2301-66G>T
ENST00000646207.1:c.*3050G>T	ENSP00000495025.1:n.*3050G>T
ENST00000646276.1:c.*3617G>T	ENSP00000496070.1:n.*3617G>T
ENST00000646592.1:c.3519G>T
ENST00000646902.1:c.4180G>T	ENSP00000494101.1:p.Asp1394Tyr
ENST00000646993.1:c.*2755G>T	ENSP00000493720.1:n.*2755G>T
ENST00000647013.1:c.4219G>T	ENSP00000496741.1:n.4219G>T
ENST00000647015.1:c.3964G>T	ENSP00000495389.1:p.Asp1322Tyr
ENST00000647086.1:c.*3799G>T	ENSP00000493677.1:n.*3799G>T
ENST00000647158.1:c.*2500G>T	ENSP00000495744.1:n.*2500G>T
ENST00000302539.8:c.4216G>T	ENSP00000303960.4:p.Asp1406Tyr
ENST00000389817.7:c.4213G>T	ENSP00000374467.3:p.Asp1405Tyr
ENST00000525022.1:n.212G>T
ENST00000526037.5:n.77G>T
ENST00000526168.5:c.67-66G>T
ENST00000531642.5:c.49G>T
NM_000352.4:c.4213G>T	NP_000343.2:p.Asp1405Tyr
NM_001287174.1:c.4216G>T	NP_001274103.1:p.Asp1406Tyr
XM_011520331.1:c.4213G>T	XP_011518633.1:p.Asp1405Tyr
XM_011520332.1:c.4216G>T	XP_011518634.1:p.Asp1406Tyr
XM_011520333.1:c.2713G>T	XP_011518635.1:p.Asp905Tyr
XR_930890.1:n.4279G>T
NM_001351295.1:c.4279G>T	NP_001338224.1:p.Asp1427Tyr
NM_001351296.1:c.4213G>T	NP_001338225.1:p.Asp1405Tyr
NM_001351297.1:c.4210G>T	NP_001338226.1:p.Asp1404Tyr
NR_147094.1:n.4508G>T
XM_017018197.2:c.4282G>T	XP_016873686.1:p.Asp1428Tyr
XM_017018199.1:c.4279G>T	XP_016873688.1:p.Asp1427Tyr
XM_017018201.2:c.4282G>T	XP_016873690.1:p.Asp1428Tyr
XM_017018202.1:c.2779G>T	XP_016873691.1:p.Asp927Tyr
XM_017018204.1:c.2170G>T	XP_016873693.1:p.Asp724Tyr
XM_024448668.1:c.2581G>T	XP_024304436.1:p.Asp861Tyr
XR_001747945.2:n.4354G>T
XR_001747946.2:n.4285G>T
XR_002957189.1:n.6068G>T
NM_000352.6:c.4213G>T MANE Select	NP_000343.2:p.Asp1405Tyr
NM_001287174.2:c.4216G>T	NP_001274103.1:p.Asp1406Tyr
NM_001351295.2:c.4279G>T	NP_001338224.1:p.Asp1427Tyr
NM_001351296.2:c.4213G>T	NP_001338225.1:p.Asp1405Tyr
NM_001351297.2:c.4210G>T	NP_001338226.1:p.Asp1404Tyr
NR_147094.2:n.4508G>T
NM_001287174.3:c.4216G>T	NP_001274103.1:p.Asp1406Tyr