Canonical Allele Identifier: CA379805001

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429978C>G (hg19) ; chr11:g.17408431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408431C>G , CM000673.2:g.17408431C>G	GRCh38
NC_000011.9:g.17429978C>G , CM000673.1:g.17429978C>G	GRCh37
NC_000011.8:g.17386554C>G	NCBI36
NG_008867.1:g.73472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2450G>C
ENST00000529967.6:n.1040G>C
ENST00000532220.2:n.513G>C
ENST00000642611.2:n.2850G>C
ENST00000682051.1:n.2797G>C
ENST00000682110.1:n.2850G>C
ENST00000682140.1:c.2778G>C	ENSP00000507829.1:p.Trp926Cys
ENST00000682185.1:n.4086G>C
ENST00000682204.1:c.*919G>C	ENSP00000507094.1:n.*919G>C
ENST00000682215.1:n.2847G>C
ENST00000682288.1:c.*1212G>C	ENSP00000507506.1:n.*1212G>C
ENST00000682442.1:n.2971G>C
ENST00000682528.1:n.2847G>C
ENST00000682673.1:n.2794G>C
ENST00000682805.1:n.2847G>C
ENST00000682965.1:c.2778G>C	ENSP00000508229.1:p.Trp926Cys
ENST00000683093.1:n.2949G>C
ENST00000683136.1:c.2778G>C	ENSP00000507768.1:p.Trp926Cys
ENST00000683153.1:n.3006G>C
ENST00000683365.1:n.2952G>C
ENST00000683377.1:n.2850G>C
ENST00000683456.1:c.2781G>C	ENSP00000508318.1:p.Trp927Cys
ENST00000683522.1:n.2850G>C
ENST00000683562.1:c.*950G>C	ENSP00000508265.1:n.*950G>C
ENST00000683693.1:n.2847G>C
ENST00000683725.1:c.2781G>C	ENSP00000507496.1:p.Trp927Cys
ENST00000684010.1:n.2765G>C
ENST00000684157.1:n.2850G>C
ENST00000684253.1:n.2753G>C
ENST00000684288.1:c.*953G>C	ENSP00000507143.1:n.*953G>C
ENST00000684313.1:n.2282G>C
ENST00000684332.1:n.2923G>C
ENST00000684371.1:n.2956G>C
ENST00000684404.1:n.2847G>C
ENST00000684442.1:n.2850G>C
ENST00000684555.1:c.*993G>C	ENSP00000507705.1:n.*993G>C
ENST00000684571.1:c.2622G>C	ENSP00000506935.1:p.Trp874Cys
ENST00000684593.1:c.*2486G>C	ENSP00000507005.1:n.*2486G>C
ENST00000684711.1:c.*1177G>C	ENSP00000506841.1:n.*1177G>C
ENST00000302539.9:c.2784G>C	ENSP00000303960.4:p.Trp928Cys
ENST00000389817.8:c.2781G>C MANE Select	ENSP00000374467.4:p.Trp927Cys
ENST00000642271.1:c.2778G>C	ENSP00000493749.1:p.Trp926Cys
ENST00000642579.1:c.865G>C
ENST00000642611.1:n.2735G>C
ENST00000642902.1:c.2616G>C
ENST00000643260.1:c.2781G>C	ENSP00000494450.1:p.Trp927Cys
ENST00000643562.1:c.*757G>C	ENSP00000496124.1:n.*757G>C
ENST00000643925.1:c.825G>C
ENST00000644447.1:c.1137G>C	ENSP00000496282.1:p.Trp379Cys
ENST00000644484.1:c.*990G>C	ENSP00000493558.1:n.*990G>C
ENST00000644542.1:c.*2486G>C	ENSP00000495532.1:n.*2486G>C
ENST00000644675.1:c.*953G>C	ENSP00000494567.1:n.*953G>C
ENST00000644757.1:c.*1086G>C	ENSP00000495085.1:n.*1086G>C
ENST00000644772.1:c.2847G>C	ENSP00000494321.1:p.Trp949Cys
ENST00000645076.1:c.2033G>C
ENST00000645744.1:c.*1145G>C	ENSP00000494564.1:n.*1145G>C
ENST00000645760.1:c.3056G>C
ENST00000645884.1:c.2781G>C	ENSP00000495516.1:p.Trp927Cys
ENST00000646003.1:c.*837G>C	ENSP00000495259.1:n.*837G>C
ENST00000646207.1:c.*1145G>C	ENSP00000495025.1:n.*1145G>C
ENST00000646276.1:c.*1054G>C	ENSP00000496070.1:n.*1054G>C
ENST00000646592.1:c.2007G>C
ENST00000646902.1:c.2778G>C	ENSP00000494101.1:p.Trp926Cys
ENST00000646993.1:c.*1177G>C	ENSP00000493720.1:n.*1177G>C
ENST00000647013.1:c.2787G>C	ENSP00000496741.1:n.2787G>C
ENST00000647015.1:c.2532G>C	ENSP00000495389.1:p.Trp844Cys
ENST00000647086.1:c.*2511G>C	ENSP00000493677.1:n.*2511G>C
ENST00000647158.1:c.*922G>C	ENSP00000495744.1:n.*922G>C
ENST00000302539.8:c.2784G>C	ENSP00000303960.4:p.Trp928Cys
ENST00000389817.7:c.2781G>C	ENSP00000374467.3:p.Trp927Cys
ENST00000526921.5:n.465G>C
ENST00000527905.5:c.2751G>C	ENSP00000431653.1:p.Trp917Cys
ENST00000529967.5:n.450G>C
NM_000352.4:c.2781G>C	NP_000343.2:p.Trp927Cys
NM_001287174.1:c.2784G>C	NP_001274103.1:p.Trp928Cys
XM_011520331.1:c.2781G>C	XP_011518633.1:p.Trp927Cys
XM_011520332.1:c.2784G>C	XP_011518634.1:p.Trp928Cys
XM_011520333.1:c.1281G>C	XP_011518635.1:p.Trp427Cys
XM_011520334.1:c.2784G>C	XP_011518636.1:p.Trp928Cys
XR_930890.1:n.2847G>C
XR_930891.1:n.2847G>C
XR_930892.1:n.2847G>C
XR_930893.1:n.2844G>C
NM_001351295.1:c.2847G>C	NP_001338224.1:p.Trp949Cys
NM_001351296.1:c.2781G>C	NP_001338225.1:p.Trp927Cys
NM_001351297.1:c.2778G>C	NP_001338226.1:p.Trp926Cys
NR_147094.1:n.2850G>C
XM_017018197.2:c.2850G>C	XP_016873686.1:p.Trp950Cys
XM_017018199.1:c.2847G>C	XP_016873688.1:p.Trp949Cys
XM_017018201.2:c.2850G>C	XP_016873690.1:p.Trp950Cys
XM_017018202.1:c.1347G>C	XP_016873691.1:p.Trp449Cys
XM_017018204.1:c.738G>C	XP_016873693.1:p.Trp246Cys
XM_024448668.1:c.1149G>C	XP_024304436.1:p.Trp383Cys
XR_001747945.2:n.2922G>C
XR_001747946.2:n.2853G>C
XR_002957189.1:n.2922G>C
NM_000352.6:c.2781G>C MANE Select	NP_000343.2:p.Trp927Cys
NM_001287174.2:c.2784G>C	NP_001274103.1:p.Trp928Cys
NM_001351295.2:c.2847G>C	NP_001338224.1:p.Trp949Cys
NM_001351296.2:c.2781G>C	NP_001338225.1:p.Trp927Cys
NM_001351297.2:c.2778G>C	NP_001338226.1:p.Trp926Cys
NR_147094.2:n.2850G>C
NM_001287174.3:c.2784G>C	NP_001274103.1:p.Trp928Cys