Canonical Allele Identifier: CA379788509

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417468A>T (hg19) ; chr11:g.17395921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395921A>T , CM000673.2:g.17395921A>T	GRCh38
NC_000011.9:g.17417468A>T , CM000673.1:g.17417468A>T	GRCh37
NC_000011.8:g.17374044A>T	NCBI36
NG_008867.1:g.85982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3730T>A
ENST00000528374.2:c.720T>A
ENST00000529967.6:n.2468T>A
ENST00000532220.2:n.3362T>A
ENST00000642611.2:n.5329T>A
ENST00000644057.2:n.572T>A
ENST00000645004.2:n.1628T>A
ENST00000682051.1:n.4291T>A
ENST00000682110.1:n.4344T>A
ENST00000682140.1:c.3995T>A	ENSP00000507829.1:p.Leu1332Gln
ENST00000682185.1:n.5434T>A
ENST00000682204.1:c.*2267T>A	ENSP00000507094.1:n.*2267T>A
ENST00000682215.1:n.4711T>A
ENST00000682288.1:c.*2560T>A	ENSP00000507506.1:n.*2560T>A
ENST00000682442.1:n.4564T>A
ENST00000682528.1:n.4421T>A
ENST00000682673.1:n.4288T>A
ENST00000682805.1:n.4749T>A
ENST00000682965.1:c.*551T>A	ENSP00000508229.1:n.*551T>A
ENST00000683093.1:n.5428T>A
ENST00000683136.1:c.4012T>A	ENSP00000507768.1:p.Cys1338Ser
ENST00000683153.1:n.4386T>A
ENST00000683365.1:n.4446T>A
ENST00000683377.1:n.4344T>A
ENST00000683456.1:c.*1266T>A	ENSP00000508318.1:n.*1266T>A
ENST00000683522.1:n.4344T>A
ENST00000683562.1:c.*2298T>A	ENSP00000508265.1:n.*2298T>A
ENST00000683693.1:n.5776T>A
ENST00000683725.1:c.4129T>A	ENSP00000507496.1:p.Cys1377Ser
ENST00000684010.1:n.4339T>A
ENST00000684157.1:n.5329T>A
ENST00000684253.1:n.4247T>A
ENST00000684288.1:c.*2301T>A	ENSP00000507143.1:n.*2301T>A
ENST00000684313.1:n.3776T>A
ENST00000684332.1:n.4417T>A
ENST00000684371.1:n.4450T>A
ENST00000684404.1:n.5372T>A
ENST00000684442.1:n.4568T>A
ENST00000684555.1:c.*2341T>A	ENSP00000507705.1:n.*2341T>A
ENST00000684571.1:c.3970T>A	ENSP00000506935.1:p.Cys1324Ser
ENST00000684593.1:c.*3834T>A	ENSP00000507005.1:n.*3834T>A
ENST00000684711.1:c.*2525T>A	ENSP00000506841.1:n.*2525T>A
ENST00000302539.9:c.4132T>A	ENSP00000303960.4:p.Cys1378Ser
ENST00000389817.8:c.4129T>A MANE Select	ENSP00000374467.4:p.Cys1377Ser
ENST00000642271.1:c.4126T>A	ENSP00000493749.1:p.Cys1376Ser
ENST00000642579.1:c.2183T>A
ENST00000642611.1:n.5214T>A
ENST00000642902.1:c.3911T>A
ENST00000643260.1:c.4129T>A	ENSP00000494450.1:p.Cys1377Ser
ENST00000643562.1:c.*2251T>A	ENSP00000496124.1:n.*2251T>A
ENST00000643925.1:c.2769T>A
ENST00000644057.1:n.206T>A
ENST00000644484.1:c.*3515T>A	ENSP00000493558.1:n.*3515T>A
ENST00000644675.1:c.*2301T>A	ENSP00000494567.1:n.*2301T>A
ENST00000644757.1:c.*3202+343T>A	ENSP00000495085.1:n.*3202+343T>A
ENST00000644772.1:c.4195T>A	ENSP00000494321.1:p.Cys1399Ser
ENST00000645004.1:n.1822T>A
ENST00000645076.1:c.3328T>A
ENST00000645417.1:c.1317T>A
ENST00000645744.1:c.*3894T>A	ENSP00000494564.1:n.*3894T>A
ENST00000645760.1:c.4550T>A
ENST00000645884.1:c.*1412T>A	ENSP00000495516.1:n.*1412T>A
ENST00000646003.1:c.*2231T>A	ENSP00000495259.1:n.*2231T>A
ENST00000646207.1:c.*2966T>A	ENSP00000495025.1:n.*2966T>A
ENST00000646276.1:c.*3533T>A	ENSP00000496070.1:n.*3533T>A
ENST00000646592.1:c.3435T>A
ENST00000646902.1:c.4096T>A	ENSP00000494101.1:p.Cys1366Ser
ENST00000646993.1:c.*2671T>A	ENSP00000493720.1:n.*2671T>A
ENST00000647013.1:c.4135T>A	ENSP00000496741.1:n.4135T>A
ENST00000647015.1:c.3880T>A	ENSP00000495389.1:p.Cys1294Ser
ENST00000647086.1:c.*3715T>A	ENSP00000493677.1:n.*3715T>A
ENST00000647158.1:c.*2416T>A	ENSP00000495744.1:n.*2416T>A
ENST00000302539.8:c.4132T>A	ENSP00000303960.4:p.Cys1378Ser
ENST00000389817.7:c.4129T>A	ENSP00000374467.3:p.Cys1377Ser
ENST00000528374.1:c.611T>A
ENST00000532220.1:n.603T>A
NM_000352.4:c.4129T>A	NP_000343.2:p.Cys1377Ser
NM_001287174.1:c.4132T>A	NP_001274103.1:p.Cys1378Ser
XM_011520331.1:c.4129T>A	XP_011518633.1:p.Cys1377Ser
XM_011520332.1:c.4132T>A	XP_011518634.1:p.Cys1378Ser
XM_011520333.1:c.2629T>A	XP_011518635.1:p.Cys877Ser
XR_930890.1:n.4195T>A
NM_001351295.1:c.4195T>A	NP_001338224.1:p.Cys1399Ser
NM_001351296.1:c.4129T>A	NP_001338225.1:p.Cys1377Ser
NM_001351297.1:c.4126T>A	NP_001338226.1:p.Cys1376Ser
NR_147094.1:n.4424T>A
XM_017018197.2:c.4198T>A	XP_016873686.1:p.Cys1400Ser
XM_017018199.1:c.4195T>A	XP_016873688.1:p.Cys1399Ser
XM_017018201.2:c.4198T>A	XP_016873690.1:p.Cys1400Ser
XM_017018202.1:c.2695T>A	XP_016873691.1:p.Cys899Ser
XM_017018204.1:c.2086T>A	XP_016873693.1:p.Cys696Ser
XM_024448668.1:c.2497T>A	XP_024304436.1:p.Cys833Ser
XR_001747945.2:n.4270T>A
XR_001747946.2:n.4201T>A
XR_002957189.1:n.5851T>A
NM_000352.6:c.4129T>A MANE Select	NP_000343.2:p.Cys1377Ser
NM_001287174.2:c.4132T>A	NP_001274103.1:p.Cys1378Ser
NM_001351295.2:c.4195T>A	NP_001338224.1:p.Cys1399Ser
NM_001351296.2:c.4129T>A	NP_001338225.1:p.Cys1377Ser
NM_001351297.2:c.4126T>A	NP_001338226.1:p.Cys1376Ser
NR_147094.2:n.4424T>A
NM_001287174.3:c.4132T>A	NP_001274103.1:p.Cys1378Ser