Canonical Allele Identifier: CA379806323

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432125C>G (hg19) ; chr11:g.17410578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410578C>G , CM000673.2:g.17410578C>G	GRCh38
NC_000011.9:g.17432125C>G , CM000673.1:g.17432125C>G	GRCh37
NC_000011.8:g.17388701C>G	NCBI36
NG_008867.1:g.71325G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2301G>C
ENST00000529967.6:n.891G>C
ENST00000642611.2:n.2701G>C
ENST00000682051.1:n.2648G>C
ENST00000682110.1:n.2701G>C
ENST00000682140.1:c.2629G>C	ENSP00000507829.1:p.Asp877His
ENST00000682185.1:n.3937G>C
ENST00000682204.1:c.*770G>C	ENSP00000507094.1:n.*770G>C
ENST00000682215.1:n.2698G>C
ENST00000682288.1:c.*1063G>C	ENSP00000507506.1:n.*1063G>C
ENST00000682442.1:n.2822G>C
ENST00000682528.1:n.2698G>C
ENST00000682673.1:n.2645G>C
ENST00000682805.1:n.2698G>C
ENST00000682965.1:c.2629G>C	ENSP00000508229.1:p.Asp877His
ENST00000683093.1:n.2800G>C
ENST00000683136.1:c.2629G>C	ENSP00000507768.1:p.Asp877His
ENST00000683153.1:n.2857G>C
ENST00000683365.1:n.2803G>C
ENST00000683377.1:n.2701G>C
ENST00000683456.1:c.2632G>C	ENSP00000508318.1:p.Asp878His
ENST00000683522.1:n.2701G>C
ENST00000683562.1:c.*801G>C	ENSP00000508265.1:n.*801G>C
ENST00000683693.1:n.2698G>C
ENST00000683725.1:c.2632G>C	ENSP00000507496.1:p.Asp878His
ENST00000684010.1:n.2616G>C
ENST00000684157.1:n.2701G>C
ENST00000684253.1:n.2604G>C
ENST00000684288.1:c.*804G>C	ENSP00000507143.1:n.*804G>C
ENST00000684313.1:n.2133G>C
ENST00000684332.1:n.2774G>C
ENST00000684371.1:n.2807G>C
ENST00000684404.1:n.2698G>C
ENST00000684442.1:n.2701G>C
ENST00000684555.1:c.*844G>C	ENSP00000507705.1:n.*844G>C
ENST00000684571.1:c.2473G>C	ENSP00000506935.1:p.Asp825His
ENST00000684593.1:c.*2337G>C	ENSP00000507005.1:n.*2337G>C
ENST00000684711.1:c.*1028G>C	ENSP00000506841.1:n.*1028G>C
ENST00000302539.9:c.2635G>C	ENSP00000303960.4:p.Asp879His
ENST00000389817.8:c.2632G>C MANE Select	ENSP00000374467.4:p.Asp878His
ENST00000642271.1:c.2629G>C	ENSP00000493749.1:p.Asp877His
ENST00000642579.1:c.716G>C
ENST00000642611.1:n.2586G>C
ENST00000642902.1:c.2467G>C
ENST00000643260.1:c.2632G>C	ENSP00000494450.1:p.Asp878His
ENST00000643562.1:c.*608G>C	ENSP00000496124.1:n.*608G>C
ENST00000643925.1:c.676G>C
ENST00000644447.1:c.988G>C	ENSP00000496282.1:p.Asp330His
ENST00000644472.1:c.*993G>C	ENSP00000495378.1:n.*993G>C
ENST00000644484.1:c.*841G>C	ENSP00000493558.1:n.*841G>C
ENST00000644542.1:c.*2337G>C	ENSP00000495532.1:n.*2337G>C
ENST00000644675.1:c.*804G>C	ENSP00000494567.1:n.*804G>C
ENST00000644757.1:c.*937G>C	ENSP00000495085.1:n.*937G>C
ENST00000644772.1:c.2698G>C	ENSP00000494321.1:p.Asp900His
ENST00000645076.1:c.1884G>C
ENST00000645744.1:c.*996G>C	ENSP00000494564.1:n.*996G>C
ENST00000645760.1:c.2907G>C
ENST00000645884.1:c.2632G>C	ENSP00000495516.1:p.Asp878His
ENST00000646003.1:c.*688G>C	ENSP00000495259.1:n.*688G>C
ENST00000646207.1:c.*996G>C	ENSP00000495025.1:n.*996G>C
ENST00000646276.1:c.*905G>C	ENSP00000496070.1:n.*905G>C
ENST00000646592.1:c.1858G>C
ENST00000646902.1:c.2629G>C	ENSP00000494101.1:p.Asp877His
ENST00000646993.1:c.*1028G>C	ENSP00000493720.1:n.*1028G>C
ENST00000647013.1:c.2638G>C	ENSP00000496741.1:n.2638G>C
ENST00000647015.1:c.2383G>C	ENSP00000495389.1:p.Asp795His
ENST00000647086.1:c.*2362G>C	ENSP00000493677.1:n.*2362G>C
ENST00000647158.1:c.*773G>C	ENSP00000495744.1:n.*773G>C
ENST00000302539.8:c.2635G>C	ENSP00000303960.4:p.Asp879His
ENST00000389817.7:c.2632G>C	ENSP00000374467.3:p.Asp878His
ENST00000526921.5:n.316G>C
ENST00000527905.5:c.2602G>C	ENSP00000431653.1:p.Asp868His
ENST00000529967.5:n.301G>C
ENST00000530147.5:n.215G>C
NM_000352.4:c.2632G>C	NP_000343.2:p.Asp878His
NM_001287174.1:c.2635G>C	NP_001274103.1:p.Asp879His
XM_011520331.1:c.2632G>C	XP_011518633.1:p.Asp878His
XM_011520332.1:c.2635G>C	XP_011518634.1:p.Asp879His
XM_011520333.1:c.1132G>C	XP_011518635.1:p.Asp378His
XM_011520334.1:c.2635G>C	XP_011518636.1:p.Asp879His
XR_930890.1:n.2698G>C
XR_930891.1:n.2698G>C
XR_930892.1:n.2698G>C
XR_930893.1:n.2695G>C
NM_001351295.1:c.2698G>C	NP_001338224.1:p.Asp900His
NM_001351296.1:c.2632G>C	NP_001338225.1:p.Asp878His
NM_001351297.1:c.2629G>C	NP_001338226.1:p.Asp877His
NR_147094.1:n.2701G>C
XM_017018197.2:c.2701G>C	XP_016873686.1:p.Asp901His
XM_017018199.1:c.2698G>C	XP_016873688.1:p.Asp900His
XM_017018201.2:c.2701G>C	XP_016873690.1:p.Asp901His
XM_017018202.1:c.1198G>C	XP_016873691.1:p.Asp400His
XM_017018204.1:c.589G>C	XP_016873693.1:p.Asp197His
XM_024448668.1:c.1000G>C	XP_024304436.1:p.Asp334His
XR_001747945.2:n.2773G>C
XR_001747946.2:n.2704G>C
XR_002957189.1:n.2773G>C
NM_000352.6:c.2632G>C MANE Select	NP_000343.2:p.Asp878His
NM_001287174.2:c.2635G>C	NP_001274103.1:p.Asp879His
NM_001351295.2:c.2698G>C	NP_001338224.1:p.Asp900His
NM_001351296.2:c.2632G>C	NP_001338225.1:p.Asp878His
NM_001351297.2:c.2629G>C	NP_001338226.1:p.Asp877His
NR_147094.2:n.2701G>C
NM_001287174.3:c.2635G>C	NP_001274103.1:p.Asp879His