Canonical Allele Identifier: CA379805467

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17408502-C-A
• MyVariant Identifiers: chr11:g.17430049C>A (hg19) ; chr11:g.17408502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408502C>A , CM000673.2:g.17408502C>A	GRCh38
NC_000011.9:g.17430049C>A , CM000673.1:g.17430049C>A	GRCh37
NC_000011.8:g.17386625C>A	NCBI36
NG_008867.1:g.73401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2379G>T
ENST00000529967.6:n.969G>T
ENST00000532220.2:n.442G>T
ENST00000642611.2:n.2779G>T
ENST00000682051.1:n.2726G>T
ENST00000682110.1:n.2779G>T
ENST00000682140.1:c.2707G>T	ENSP00000507829.1:p.Asp903Tyr
ENST00000682185.1:n.4015G>T
ENST00000682204.1:c.*848G>T	ENSP00000507094.1:n.*848G>T
ENST00000682215.1:n.2776G>T
ENST00000682288.1:c.*1141G>T	ENSP00000507506.1:n.*1141G>T
ENST00000682442.1:n.2900G>T
ENST00000682528.1:n.2776G>T
ENST00000682673.1:n.2723G>T
ENST00000682805.1:n.2776G>T
ENST00000682965.1:c.2707G>T	ENSP00000508229.1:p.Asp903Tyr
ENST00000683093.1:n.2878G>T
ENST00000683136.1:c.2707G>T	ENSP00000507768.1:p.Asp903Tyr
ENST00000683153.1:n.2935G>T
ENST00000683365.1:n.2881G>T
ENST00000683377.1:n.2779G>T
ENST00000683456.1:c.2710G>T	ENSP00000508318.1:p.Asp904Tyr
ENST00000683522.1:n.2779G>T
ENST00000683562.1:c.*879G>T	ENSP00000508265.1:n.*879G>T
ENST00000683693.1:n.2776G>T
ENST00000683725.1:c.2710G>T	ENSP00000507496.1:p.Asp904Tyr
ENST00000684010.1:n.2694G>T
ENST00000684157.1:n.2779G>T
ENST00000684253.1:n.2682G>T
ENST00000684288.1:c.*882G>T	ENSP00000507143.1:n.*882G>T
ENST00000684313.1:n.2211G>T
ENST00000684332.1:n.2852G>T
ENST00000684371.1:n.2885G>T
ENST00000684404.1:n.2776G>T
ENST00000684442.1:n.2779G>T
ENST00000684555.1:c.*922G>T	ENSP00000507705.1:n.*922G>T
ENST00000684571.1:c.2551G>T	ENSP00000506935.1:p.Asp851Tyr
ENST00000684593.1:c.*2415G>T	ENSP00000507005.1:n.*2415G>T
ENST00000684711.1:c.*1106G>T	ENSP00000506841.1:n.*1106G>T
ENST00000302539.9:c.2713G>T	ENSP00000303960.4:p.Asp905Tyr
ENST00000389817.8:c.2710G>T MANE Select	ENSP00000374467.4:p.Asp904Tyr
ENST00000642271.1:c.2707G>T	ENSP00000493749.1:p.Asp903Tyr
ENST00000642579.1:c.794G>T
ENST00000642611.1:n.2664G>T
ENST00000642902.1:c.2545G>T
ENST00000643260.1:c.2710G>T	ENSP00000494450.1:p.Asp904Tyr
ENST00000643562.1:c.*686G>T	ENSP00000496124.1:n.*686G>T
ENST00000643925.1:c.754G>T
ENST00000644447.1:c.1066G>T	ENSP00000496282.1:p.Asp356Tyr
ENST00000644472.1:c.*1071G>T	ENSP00000495378.1:n.*1071G>T
ENST00000644484.1:c.*919G>T	ENSP00000493558.1:n.*919G>T
ENST00000644542.1:c.*2415G>T	ENSP00000495532.1:n.*2415G>T
ENST00000644675.1:c.*882G>T	ENSP00000494567.1:n.*882G>T
ENST00000644757.1:c.*1015G>T	ENSP00000495085.1:n.*1015G>T
ENST00000644772.1:c.2776G>T	ENSP00000494321.1:p.Asp926Tyr
ENST00000645076.1:c.1962G>T
ENST00000645744.1:c.*1074G>T	ENSP00000494564.1:n.*1074G>T
ENST00000645760.1:c.2985G>T
ENST00000645884.1:c.2710G>T	ENSP00000495516.1:p.Asp904Tyr
ENST00000646003.1:c.*766G>T	ENSP00000495259.1:n.*766G>T
ENST00000646207.1:c.*1074G>T	ENSP00000495025.1:n.*1074G>T
ENST00000646276.1:c.*983G>T	ENSP00000496070.1:n.*983G>T
ENST00000646592.1:c.1936G>T
ENST00000646902.1:c.2707G>T	ENSP00000494101.1:p.Asp903Tyr
ENST00000646993.1:c.*1106G>T	ENSP00000493720.1:n.*1106G>T
ENST00000647013.1:c.2716G>T	ENSP00000496741.1:n.2716G>T
ENST00000647015.1:c.2461G>T	ENSP00000495389.1:p.Asp821Tyr
ENST00000647086.1:c.*2440G>T	ENSP00000493677.1:n.*2440G>T
ENST00000647158.1:c.*851G>T	ENSP00000495744.1:n.*851G>T
ENST00000302539.8:c.2713G>T	ENSP00000303960.4:p.Asp905Tyr
ENST00000389817.7:c.2710G>T	ENSP00000374467.3:p.Asp904Tyr
ENST00000526921.5:n.394G>T
ENST00000527905.5:c.2680G>T	ENSP00000431653.1:p.Asp894Tyr
ENST00000529967.5:n.379G>T
NM_000352.4:c.2710G>T	NP_000343.2:p.Asp904Tyr
NM_001287174.1:c.2713G>T	NP_001274103.1:p.Asp905Tyr
XM_011520331.1:c.2710G>T	XP_011518633.1:p.Asp904Tyr
XM_011520332.1:c.2713G>T	XP_011518634.1:p.Asp905Tyr
XM_011520333.1:c.1210G>T	XP_011518635.1:p.Asp404Tyr
XM_011520334.1:c.2713G>T	XP_011518636.1:p.Asp905Tyr
XR_930890.1:n.2776G>T
XR_930891.1:n.2776G>T
XR_930892.1:n.2776G>T
XR_930893.1:n.2773G>T
NM_001351295.1:c.2776G>T	NP_001338224.1:p.Asp926Tyr
NM_001351296.1:c.2710G>T	NP_001338225.1:p.Asp904Tyr
NM_001351297.1:c.2707G>T	NP_001338226.1:p.Asp903Tyr
NR_147094.1:n.2779G>T
XM_017018197.2:c.2779G>T	XP_016873686.1:p.Asp927Tyr
XM_017018199.1:c.2776G>T	XP_016873688.1:p.Asp926Tyr
XM_017018201.2:c.2779G>T	XP_016873690.1:p.Asp927Tyr
XM_017018202.1:c.1276G>T	XP_016873691.1:p.Asp426Tyr
XM_017018204.1:c.667G>T	XP_016873693.1:p.Asp223Tyr
XM_024448668.1:c.1078G>T	XP_024304436.1:p.Asp360Tyr
XR_001747945.2:n.2851G>T
XR_001747946.2:n.2782G>T
XR_002957189.1:n.2851G>T
NM_000352.6:c.2710G>T MANE Select	NP_000343.2:p.Asp904Tyr
NM_001287174.2:c.2713G>T	NP_001274103.1:p.Asp905Tyr
NM_001351295.2:c.2776G>T	NP_001338224.1:p.Asp926Tyr
NM_001351296.2:c.2710G>T	NP_001338225.1:p.Asp904Tyr
NM_001351297.2:c.2707G>T	NP_001338226.1:p.Asp903Tyr
NR_147094.2:n.2779G>T
NM_001287174.3:c.2713G>T	NP_001274103.1:p.Asp905Tyr