Canonical Allele Identifier: CA379786445

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417176G>C (hg19) ; chr11:g.17395629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395629G>C , CM000673.2:g.17395629G>C	GRCh38
NC_000011.9:g.17417176G>C , CM000673.1:g.17417176G>C	GRCh37
NC_000011.8:g.17373752G>C	NCBI36
NG_008867.1:g.86274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3889C>G
ENST00000528374.2:c.879C>G
ENST00000529967.6:n.2627C>G
ENST00000532220.2:n.3521C>G
ENST00000642611.2:n.5621C>G
ENST00000644057.2:n.864C>G
ENST00000645004.2:n.1787C>G
ENST00000682051.1:n.4450C>G
ENST00000682110.1:n.4503C>G
ENST00000682140.1:c.*74C>G	ENSP00000507829.1:n.*74C>G
ENST00000682185.1:n.5593C>G
ENST00000682204.1:c.*2426C>G	ENSP00000507094.1:n.*2426C>G
ENST00000682215.1:n.4870C>G
ENST00000682288.1:c.*2719C>G	ENSP00000507506.1:n.*2719C>G
ENST00000682442.1:n.4723C>G
ENST00000682528.1:n.4580C>G
ENST00000682673.1:n.4447C>G
ENST00000682805.1:n.4908C>G
ENST00000682965.1:c.*710C>G	ENSP00000508229.1:n.*710C>G
ENST00000683093.1:n.5587C>G
ENST00000683136.1:c.4171C>G	ENSP00000507768.1:p.Leu1391Val
ENST00000683153.1:n.4545C>G
ENST00000683365.1:n.4605C>G
ENST00000683377.1:n.4503C>G
ENST00000683456.1:c.*1425C>G	ENSP00000508318.1:n.*1425C>G
ENST00000683522.1:n.4503C>G
ENST00000683562.1:c.*2457C>G	ENSP00000508265.1:n.*2457C>G
ENST00000683693.1:n.6068C>G
ENST00000683725.1:c.4288C>G	ENSP00000507496.1:p.Leu1430Val
ENST00000684010.1:n.4498C>G
ENST00000684157.1:n.5488C>G
ENST00000684253.1:n.4406C>G
ENST00000684288.1:c.*2460C>G	ENSP00000507143.1:n.*2460C>G
ENST00000684313.1:n.3935C>G
ENST00000684332.1:n.4576C>G
ENST00000684371.1:n.4609C>G
ENST00000684404.1:n.5531C>G
ENST00000684442.1:n.4727C>G
ENST00000684555.1:c.*2500C>G	ENSP00000507705.1:n.*2500C>G
ENST00000684571.1:c.4129C>G	ENSP00000506935.1:p.Leu1377Val
ENST00000684593.1:c.*3993C>G	ENSP00000507005.1:n.*3993C>G
ENST00000684711.1:c.*2684C>G	ENSP00000506841.1:n.*2684C>G
ENST00000302539.9:c.4291C>G	ENSP00000303960.4:p.Leu1431Val
ENST00000389817.8:c.4288C>G MANE Select	ENSP00000374467.4:p.Leu1430Val
ENST00000642271.1:c.4285C>G	ENSP00000493749.1:p.Leu1429Val
ENST00000642579.1:c.2342C>G
ENST00000642611.1:n.5506C>G
ENST00000642902.1:c.4070C>G
ENST00000643260.1:c.4288C>G	ENSP00000494450.1:p.Leu1430Val
ENST00000643562.1:c.*2410C>G	ENSP00000496124.1:n.*2410C>G
ENST00000643925.1:c.2928C>G
ENST00000644057.1:n.365C>G
ENST00000644484.1:c.*3674C>G	ENSP00000493558.1:n.*3674C>G
ENST00000644675.1:c.*2460C>G	ENSP00000494567.1:n.*2460C>G
ENST00000644757.1:c.*3202+635C>G	ENSP00000495085.1:n.*3202+635C>G
ENST00000644772.1:c.4354C>G	ENSP00000494321.1:p.Leu1452Val
ENST00000645004.1:n.1981C>G
ENST00000645076.1:c.3487C>G
ENST00000645417.1:c.1476C>G
ENST00000645744.1:c.*3973C>G	ENSP00000494564.1:n.*3973C>G
ENST00000645760.1:c.4709C>G
ENST00000645884.1:c.*1571C>G	ENSP00000495516.1:n.*1571C>G
ENST00000646003.1:c.*2310C>G	ENSP00000495259.1:n.*2310C>G
ENST00000646207.1:c.*3125C>G	ENSP00000495025.1:n.*3125C>G
ENST00000646276.1:c.*3692C>G	ENSP00000496070.1:n.*3692C>G
ENST00000646592.1:c.3594C>G
ENST00000646902.1:c.4255C>G	ENSP00000494101.1:p.Leu1419Val
ENST00000646993.1:c.*2830C>G	ENSP00000493720.1:n.*2830C>G
ENST00000647013.1:c.4294C>G	ENSP00000496741.1:n.4294C>G
ENST00000647015.1:c.4039C>G	ENSP00000495389.1:p.Leu1347Val
ENST00000647086.1:c.*3874C>G	ENSP00000493677.1:n.*3874C>G
ENST00000647158.1:c.*2575C>G	ENSP00000495744.1:n.*2575C>G
ENST00000302539.8:c.4291C>G	ENSP00000303960.4:p.Leu1431Val
ENST00000389817.7:c.4288C>G	ENSP00000374467.3:p.Leu1430Val
ENST00000525022.1:n.287C>G
ENST00000526037.5:n.152C>G
ENST00000526168.5:c.76C>G
ENST00000531642.5:c.124C>G
NM_000352.4:c.4288C>G	NP_000343.2:p.Leu1430Val
NM_001287174.1:c.4291C>G	NP_001274103.1:p.Leu1431Val
XM_011520331.1:c.4288C>G	XP_011518633.1:p.Leu1430Val
XM_011520332.1:c.4291C>G	XP_011518634.1:p.Leu1431Val
XM_011520333.1:c.2788C>G	XP_011518635.1:p.Leu930Val
XR_930890.1:n.4354C>G
NM_001351295.1:c.4354C>G	NP_001338224.1:p.Leu1452Val
NM_001351296.1:c.4288C>G	NP_001338225.1:p.Leu1430Val
NM_001351297.1:c.4285C>G	NP_001338226.1:p.Leu1429Val
NR_147094.1:n.4583C>G
XM_017018197.2:c.4357C>G	XP_016873686.1:p.Leu1453Val
XM_017018199.1:c.4354C>G	XP_016873688.1:p.Leu1452Val
XM_017018201.2:c.4357C>G	XP_016873690.1:p.Leu1453Val
XM_017018202.1:c.2854C>G	XP_016873691.1:p.Leu952Val
XM_017018204.1:c.2245C>G	XP_016873693.1:p.Leu749Val
XM_024448668.1:c.2656C>G	XP_024304436.1:p.Leu886Val
XR_001747945.2:n.4429C>G
XR_001747946.2:n.4360C>G
XR_002957189.1:n.6143C>G
NM_000352.6:c.4288C>G MANE Select	NP_000343.2:p.Leu1430Val
NM_001287174.2:c.4291C>G	NP_001274103.1:p.Leu1431Val
NM_001351295.2:c.4354C>G	NP_001338224.1:p.Leu1452Val
NM_001351296.2:c.4288C>G	NP_001338225.1:p.Leu1430Val
NM_001351297.2:c.4285C>G	NP_001338226.1:p.Leu1429Val
NR_147094.2:n.4583C>G
NM_001287174.3:c.4291C>G	NP_001274103.1:p.Leu1431Val