Canonical Allele Identifier: CA379782100

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415285C>G (hg19) ; chr11:g.17393738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393738C>G , CM000673.2:g.17393738C>G	GRCh38
NC_000011.9:g.17415285C>G , CM000673.1:g.17415285C>G	GRCh37
NC_000011.8:g.17371861C>G	NCBI36
NG_008867.1:g.88165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4168G>C
ENST00000526037.6:n.502G>C
ENST00000528374.2:c.1158G>C
ENST00000529967.6:n.2906G>C
ENST00000532220.2:n.3800G>C
ENST00000642611.2:n.5900G>C
ENST00000644057.2:n.1143G>C
ENST00000645004.2:n.2066G>C
ENST00000682051.1:n.4729G>C
ENST00000682110.1:n.4782G>C
ENST00000682140.1:c.*353G>C	ENSP00000507829.1:n.*353G>C
ENST00000682185.1:n.5872G>C
ENST00000682204.1:c.*2705G>C	ENSP00000507094.1:n.*2705G>C
ENST00000682215.1:n.5149G>C
ENST00000682288.1:c.*2998G>C	ENSP00000507506.1:n.*2998G>C
ENST00000682442.1:n.5002G>C
ENST00000682528.1:n.4859G>C
ENST00000682673.1:n.4726G>C
ENST00000682805.1:n.5187G>C
ENST00000682965.1:c.*989G>C	ENSP00000508229.1:n.*989G>C
ENST00000683093.1:n.5762G>C
ENST00000683136.1:c.4450G>C	ENSP00000507768.1:p.Val1484Leu
ENST00000683153.1:n.4824G>C
ENST00000683365.1:n.4884G>C
ENST00000683377.1:n.4678G>C
ENST00000683456.1:c.*1704G>C	ENSP00000508318.1:n.*1704G>C
ENST00000683522.1:n.4864G>C
ENST00000683562.1:c.*2632G>C	ENSP00000508265.1:n.*2632G>C
ENST00000683693.1:n.6243G>C
ENST00000683725.1:c.*32G>C	ENSP00000507496.1:n.*32G>C
ENST00000684010.1:n.4777G>C
ENST00000684014.1:n.754G>C
ENST00000684157.1:n.5767G>C
ENST00000684253.1:n.4685G>C
ENST00000684288.1:c.*2739G>C	ENSP00000507143.1:n.*2739G>C
ENST00000684313.1:n.4214G>C
ENST00000684332.1:n.4855G>C
ENST00000684371.1:n.4888G>C
ENST00000684404.1:n.5810G>C
ENST00000684442.1:n.5006G>C
ENST00000684555.1:c.*2779G>C	ENSP00000507705.1:n.*2779G>C
ENST00000684571.1:c.4408G>C	ENSP00000506935.1:p.Val1470Leu
ENST00000684593.1:c.*4272G>C	ENSP00000507005.1:n.*4272G>C
ENST00000684711.1:c.*2963G>C	ENSP00000506841.1:n.*2963G>C
ENST00000302539.9:c.4570G>C	ENSP00000303960.4:p.Val1524Leu
ENST00000389817.8:c.4567G>C MANE Select	ENSP00000374467.4:p.Val1523Leu
ENST00000642271.1:c.4564G>C	ENSP00000493749.1:p.Val1522Leu
ENST00000642579.1:c.2621G>C
ENST00000642611.1:n.5785G>C
ENST00000642902.1:c.4349G>C
ENST00000643260.1:c.4567G>C	ENSP00000494450.1:p.Val1523Leu
ENST00000643562.1:c.*2689G>C	ENSP00000496124.1:n.*2689G>C
ENST00000643925.1:c.3185+528G>C
ENST00000644057.1:n.726G>C
ENST00000644484.1:c.*3953G>C	ENSP00000493558.1:n.*3953G>C
ENST00000644675.1:c.*2739G>C	ENSP00000494567.1:n.*2739G>C
ENST00000644757.1:c.*3203-758G>C	ENSP00000495085.1:n.*3203-758G>C
ENST00000644772.1:c.4633G>C	ENSP00000494321.1:p.Val1545Leu
ENST00000645004.1:n.2260G>C
ENST00000645076.1:c.3662G>C
ENST00000645417.1:c.1755G>C
ENST00000645744.1:c.*4252G>C	ENSP00000494564.1:n.*4252G>C
ENST00000645760.1:c.4988G>C
ENST00000645884.1:c.*1850G>C	ENSP00000495516.1:n.*1850G>C
ENST00000646003.1:c.*2589G>C	ENSP00000495259.1:n.*2589G>C
ENST00000646207.1:c.*3404G>C	ENSP00000495025.1:n.*3404G>C
ENST00000646276.1:c.*3971G>C	ENSP00000496070.1:n.*3971G>C
ENST00000646592.1:c.3873G>C
ENST00000646902.1:c.4534G>C	ENSP00000494101.1:p.Val1512Leu
ENST00000646993.1:c.*3005G>C	ENSP00000493720.1:n.*3005G>C
ENST00000647015.1:c.4318G>C	ENSP00000495389.1:p.Val1440Leu
ENST00000647086.1:c.*4153G>C	ENSP00000493677.1:n.*4153G>C
ENST00000647158.1:c.*2854G>C	ENSP00000495744.1:n.*2854G>C
ENST00000302539.8:c.4570G>C	ENSP00000303960.4:p.Val1524Leu
ENST00000389817.7:c.4567G>C	ENSP00000374467.3:p.Val1523Leu
ENST00000525022.1:n.462G>C
ENST00000526037.5:n.327G>C
ENST00000526168.5:c.355G>C
ENST00000531642.5:c.598G>C
NM_000352.4:c.4567G>C	NP_000343.2:p.Val1523Leu
NM_001287174.1:c.4570G>C	NP_001274103.1:p.Val1524Leu
XM_011520331.1:c.4567G>C	XP_011518633.1:p.Val1523Leu
XM_011520333.1:c.3067G>C	XP_011518635.1:p.Val1023Leu
XR_930890.1:n.4529G>C
NM_001351295.1:c.4633G>C	NP_001338224.1:p.Val1545Leu
NM_001351296.1:c.4567G>C	NP_001338225.1:p.Val1523Leu
NM_001351297.1:c.4564G>C	NP_001338226.1:p.Val1522Leu
NR_147094.1:n.4862G>C
XM_017018197.2:c.4636G>C	XP_016873686.1:p.Val1546Leu
XM_017018199.1:c.4633G>C	XP_016873688.1:p.Val1545Leu
XM_017018202.1:c.3133G>C	XP_016873691.1:p.Val1045Leu
XM_017018204.1:c.2524G>C	XP_016873693.1:p.Val842Leu
XM_024448668.1:c.2935G>C	XP_024304436.1:p.Val979Leu
XR_001747945.2:n.4604G>C
XR_001747946.2:n.4535G>C
XR_002957189.1:n.6318G>C
NM_000352.6:c.4567G>C MANE Select	NP_000343.2:p.Val1523Leu
NM_001287174.2:c.4570G>C	NP_001274103.1:p.Val1524Leu
NM_001351295.2:c.4633G>C	NP_001338224.1:p.Val1545Leu
NM_001351296.2:c.4567G>C	NP_001338225.1:p.Val1523Leu
NM_001351297.2:c.4564G>C	NP_001338226.1:p.Val1522Leu
NR_147094.2:n.4862G>C
NM_001287174.3:c.4570G>C	NP_001274103.1:p.Val1524Leu