Canonical Allele Identifier: CA379805188

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 939498
• ClinVar RCV Id: RCV001208911 ; RCV002251561 ; RCV002251562
• dbSNP Id: rs1954644972
• gnomAD v4: 11-17408448-G-A
• MyVariant Identifiers: chr11:g.17429995G>A (hg19) ; chr11:g.17408448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408448G>A , CM000673.2:g.17408448G>A	GRCh38
NC_000011.9:g.17429995G>A , CM000673.1:g.17429995G>A	GRCh37
NC_000011.8:g.17386571G>A	NCBI36
NG_008867.1:g.73455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2433C>T
ENST00000529967.6:n.1023C>T
ENST00000532220.2:n.496C>T
ENST00000642611.2:n.2833C>T
ENST00000682051.1:n.2780C>T
ENST00000682110.1:n.2833C>T
ENST00000682140.1:c.2761C>T	ENSP00000507829.1:p.Gln921Ter
ENST00000682185.1:n.4069C>T
ENST00000682204.1:c.*902C>T	ENSP00000507094.1:n.*902C>T
ENST00000682215.1:n.2830C>T
ENST00000682288.1:c.*1195C>T	ENSP00000507506.1:n.*1195C>T
ENST00000682442.1:n.2954C>T
ENST00000682528.1:n.2830C>T
ENST00000682673.1:n.2777C>T
ENST00000682805.1:n.2830C>T
ENST00000682965.1:c.2761C>T	ENSP00000508229.1:p.Gln921Ter
ENST00000683093.1:n.2932C>T
ENST00000683136.1:c.2761C>T	ENSP00000507768.1:p.Gln921Ter
ENST00000683153.1:n.2989C>T
ENST00000683365.1:n.2935C>T
ENST00000683377.1:n.2833C>T
ENST00000683456.1:c.2764C>T	ENSP00000508318.1:p.Gln922Ter
ENST00000683522.1:n.2833C>T
ENST00000683562.1:c.*933C>T	ENSP00000508265.1:n.*933C>T
ENST00000683693.1:n.2830C>T
ENST00000683725.1:c.2764C>T	ENSP00000507496.1:p.Gln922Ter
ENST00000684010.1:n.2748C>T
ENST00000684157.1:n.2833C>T
ENST00000684253.1:n.2736C>T
ENST00000684288.1:c.*936C>T	ENSP00000507143.1:n.*936C>T
ENST00000684313.1:n.2265C>T
ENST00000684332.1:n.2906C>T
ENST00000684371.1:n.2939C>T
ENST00000684404.1:n.2830C>T
ENST00000684442.1:n.2833C>T
ENST00000684555.1:c.*976C>T	ENSP00000507705.1:n.*976C>T
ENST00000684571.1:c.2605C>T	ENSP00000506935.1:p.Gln869Ter
ENST00000684593.1:c.*2469C>T	ENSP00000507005.1:n.*2469C>T
ENST00000684711.1:c.*1160C>T	ENSP00000506841.1:n.*1160C>T
ENST00000302539.9:c.2767C>T	ENSP00000303960.4:p.Gln923Ter
ENST00000389817.8:c.2764C>T MANE Select	ENSP00000374467.4:p.Gln922Ter
ENST00000642271.1:c.2761C>T	ENSP00000493749.1:p.Gln921Ter
ENST00000642579.1:c.848C>T
ENST00000642611.1:n.2718C>T
ENST00000642902.1:c.2599C>T
ENST00000643260.1:c.2764C>T	ENSP00000494450.1:p.Gln922Ter
ENST00000643562.1:c.*740C>T	ENSP00000496124.1:n.*740C>T
ENST00000643925.1:c.808C>T
ENST00000644447.1:c.1120C>T	ENSP00000496282.1:p.Gln374Ter
ENST00000644472.1:c.*1125C>T	ENSP00000495378.1:n.*1125C>T
ENST00000644484.1:c.*973C>T	ENSP00000493558.1:n.*973C>T
ENST00000644542.1:c.*2469C>T	ENSP00000495532.1:n.*2469C>T
ENST00000644675.1:c.*936C>T	ENSP00000494567.1:n.*936C>T
ENST00000644757.1:c.*1069C>T	ENSP00000495085.1:n.*1069C>T
ENST00000644772.1:c.2830C>T	ENSP00000494321.1:p.Gln944Ter
ENST00000645076.1:c.2016C>T
ENST00000645744.1:c.*1128C>T	ENSP00000494564.1:n.*1128C>T
ENST00000645760.1:c.3039C>T
ENST00000645884.1:c.2764C>T	ENSP00000495516.1:p.Gln922Ter
ENST00000646003.1:c.*820C>T	ENSP00000495259.1:n.*820C>T
ENST00000646207.1:c.*1128C>T	ENSP00000495025.1:n.*1128C>T
ENST00000646276.1:c.*1037C>T	ENSP00000496070.1:n.*1037C>T
ENST00000646592.1:c.1990C>T
ENST00000646902.1:c.2761C>T	ENSP00000494101.1:p.Gln921Ter
ENST00000646993.1:c.*1160C>T	ENSP00000493720.1:n.*1160C>T
ENST00000647013.1:c.2770C>T	ENSP00000496741.1:n.2770C>T
ENST00000647015.1:c.2515C>T	ENSP00000495389.1:p.Gln839Ter
ENST00000647086.1:c.*2494C>T	ENSP00000493677.1:n.*2494C>T
ENST00000647158.1:c.*905C>T	ENSP00000495744.1:n.*905C>T
ENST00000302539.8:c.2767C>T	ENSP00000303960.4:p.Gln923Ter
ENST00000389817.7:c.2764C>T	ENSP00000374467.3:p.Gln922Ter
ENST00000526921.5:n.448C>T
ENST00000527905.5:c.2734C>T	ENSP00000431653.1:p.Gln912Ter
ENST00000529967.5:n.433C>T
NM_000352.4:c.2764C>T	NP_000343.2:p.Gln922Ter
NM_001287174.1:c.2767C>T	NP_001274103.1:p.Gln923Ter
XM_011520331.1:c.2764C>T	XP_011518633.1:p.Gln922Ter
XM_011520332.1:c.2767C>T	XP_011518634.1:p.Gln923Ter
XM_011520333.1:c.1264C>T	XP_011518635.1:p.Gln422Ter
XM_011520334.1:c.2767C>T	XP_011518636.1:p.Gln923Ter
XR_930890.1:n.2830C>T
XR_930891.1:n.2830C>T
XR_930892.1:n.2830C>T
XR_930893.1:n.2827C>T
NM_001351295.1:c.2830C>T	NP_001338224.1:p.Gln944Ter
NM_001351296.1:c.2764C>T	NP_001338225.1:p.Gln922Ter
NM_001351297.1:c.2761C>T	NP_001338226.1:p.Gln921Ter
NR_147094.1:n.2833C>T
XM_017018197.2:c.2833C>T	XP_016873686.1:p.Gln945Ter
XM_017018199.1:c.2830C>T	XP_016873688.1:p.Gln944Ter
XM_017018201.2:c.2833C>T	XP_016873690.1:p.Gln945Ter
XM_017018202.1:c.1330C>T	XP_016873691.1:p.Gln444Ter
XM_017018204.1:c.721C>T	XP_016873693.1:p.Gln241Ter
XM_024448668.1:c.1132C>T	XP_024304436.1:p.Gln378Ter
XR_001747945.2:n.2905C>T
XR_001747946.2:n.2836C>T
XR_002957189.1:n.2905C>T
NM_000352.6:c.2764C>T MANE Select	NP_000343.2:p.Gln922Ter
NM_001287174.2:c.2767C>T	NP_001274103.1:p.Gln923Ter
NM_001351295.2:c.2830C>T	NP_001338224.1:p.Gln944Ter
NM_001351296.2:c.2764C>T	NP_001338225.1:p.Gln922Ter
NM_001351297.2:c.2761C>T	NP_001338226.1:p.Gln921Ter
NR_147094.2:n.2833C>T
NM_001287174.3:c.2767C>T	NP_001274103.1:p.Gln923Ter