Canonical Allele Identifier: CA379806501

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432155T>G (hg19) ; chr11:g.17410608T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410608T>G , CM000673.2:g.17410608T>G	GRCh38
NC_000011.9:g.17432155T>G , CM000673.1:g.17432155T>G	GRCh37
NC_000011.8:g.17388731T>G	NCBI36
NG_008867.1:g.71295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2271A>C
ENST00000529967.6:n.861A>C
ENST00000642611.2:n.2671A>C
ENST00000682051.1:n.2618A>C
ENST00000682110.1:n.2671A>C
ENST00000682140.1:c.2599A>C	ENSP00000507829.1:p.Met867Leu
ENST00000682185.1:n.3907A>C
ENST00000682204.1:c.*740A>C	ENSP00000507094.1:n.*740A>C
ENST00000682215.1:n.2668A>C
ENST00000682288.1:c.*1033A>C	ENSP00000507506.1:n.*1033A>C
ENST00000682442.1:n.2792A>C
ENST00000682528.1:n.2668A>C
ENST00000682673.1:n.2615A>C
ENST00000682805.1:n.2668A>C
ENST00000682965.1:c.2599A>C	ENSP00000508229.1:p.Met867Leu
ENST00000683093.1:n.2770A>C
ENST00000683136.1:c.2599A>C	ENSP00000507768.1:p.Met867Leu
ENST00000683153.1:n.2827A>C
ENST00000683365.1:n.2773A>C
ENST00000683377.1:n.2671A>C
ENST00000683456.1:c.2602A>C	ENSP00000508318.1:p.Met868Leu
ENST00000683522.1:n.2671A>C
ENST00000683562.1:c.*771A>C	ENSP00000508265.1:n.*771A>C
ENST00000683693.1:n.2668A>C
ENST00000683725.1:c.2602A>C	ENSP00000507496.1:p.Met868Leu
ENST00000684010.1:n.2586A>C
ENST00000684157.1:n.2671A>C
ENST00000684253.1:n.2574A>C
ENST00000684288.1:c.*774A>C	ENSP00000507143.1:n.*774A>C
ENST00000684313.1:n.2103A>C
ENST00000684332.1:n.2744A>C
ENST00000684371.1:n.2777A>C
ENST00000684404.1:n.2668A>C
ENST00000684442.1:n.2671A>C
ENST00000684555.1:c.*814A>C	ENSP00000507705.1:n.*814A>C
ENST00000684571.1:c.2443A>C	ENSP00000506935.1:p.Met815Leu
ENST00000684593.1:c.*2307A>C	ENSP00000507005.1:n.*2307A>C
ENST00000684711.1:c.*998A>C	ENSP00000506841.1:n.*998A>C
ENST00000302539.9:c.2605A>C	ENSP00000303960.4:p.Met869Leu
ENST00000389817.8:c.2602A>C MANE Select	ENSP00000374467.4:p.Met868Leu
ENST00000642271.1:c.2599A>C	ENSP00000493749.1:p.Met867Leu
ENST00000642579.1:c.686A>C
ENST00000642611.1:n.2556A>C
ENST00000642902.1:c.2437A>C
ENST00000643260.1:c.2602A>C	ENSP00000494450.1:p.Met868Leu
ENST00000643562.1:c.*578A>C	ENSP00000496124.1:n.*578A>C
ENST00000643925.1:c.646A>C
ENST00000644447.1:c.958A>C	ENSP00000496282.1:p.Met320Leu
ENST00000644472.1:c.*963A>C	ENSP00000495378.1:n.*963A>C
ENST00000644484.1:c.*811A>C	ENSP00000493558.1:n.*811A>C
ENST00000644542.1:c.*2307A>C	ENSP00000495532.1:n.*2307A>C
ENST00000644675.1:c.*774A>C	ENSP00000494567.1:n.*774A>C
ENST00000644757.1:c.*907A>C	ENSP00000495085.1:n.*907A>C
ENST00000644772.1:c.2668A>C	ENSP00000494321.1:p.Met890Leu
ENST00000645076.1:c.1854A>C
ENST00000645744.1:c.*966A>C	ENSP00000494564.1:n.*966A>C
ENST00000645760.1:c.2877A>C
ENST00000645884.1:c.2602A>C	ENSP00000495516.1:p.Met868Leu
ENST00000646003.1:c.*658A>C	ENSP00000495259.1:n.*658A>C
ENST00000646207.1:c.*966A>C	ENSP00000495025.1:n.*966A>C
ENST00000646276.1:c.*875A>C	ENSP00000496070.1:n.*875A>C
ENST00000646592.1:c.1828A>C
ENST00000646902.1:c.2599A>C	ENSP00000494101.1:p.Met867Leu
ENST00000646993.1:c.*998A>C	ENSP00000493720.1:n.*998A>C
ENST00000647013.1:c.2608A>C	ENSP00000496741.1:n.2608A>C
ENST00000647015.1:c.2353A>C	ENSP00000495389.1:p.Met785Leu
ENST00000647086.1:c.*2332A>C	ENSP00000493677.1:n.*2332A>C
ENST00000647158.1:c.*743A>C	ENSP00000495744.1:n.*743A>C
ENST00000302539.8:c.2605A>C	ENSP00000303960.4:p.Met869Leu
ENST00000389817.7:c.2602A>C	ENSP00000374467.3:p.Met868Leu
ENST00000526921.5:n.286A>C
ENST00000527905.5:c.2572A>C	ENSP00000431653.1:p.Met858Leu
ENST00000529967.5:n.271A>C
ENST00000530147.5:n.185A>C
ENST00000531911.1:n.716A>C
NM_000352.4:c.2602A>C	NP_000343.2:p.Met868Leu
NM_001287174.1:c.2605A>C	NP_001274103.1:p.Met869Leu
XM_011520331.1:c.2602A>C	XP_011518633.1:p.Met868Leu
XM_011520332.1:c.2605A>C	XP_011518634.1:p.Met869Leu
XM_011520333.1:c.1102A>C	XP_011518635.1:p.Met368Leu
XM_011520334.1:c.2605A>C	XP_011518636.1:p.Met869Leu
XR_930890.1:n.2668A>C
XR_930891.1:n.2668A>C
XR_930892.1:n.2668A>C
XR_930893.1:n.2665A>C
NM_001351295.1:c.2668A>C	NP_001338224.1:p.Met890Leu
NM_001351296.1:c.2602A>C	NP_001338225.1:p.Met868Leu
NM_001351297.1:c.2599A>C	NP_001338226.1:p.Met867Leu
NR_147094.1:n.2671A>C
XM_017018197.2:c.2671A>C	XP_016873686.1:p.Met891Leu
XM_017018199.1:c.2668A>C	XP_016873688.1:p.Met890Leu
XM_017018201.2:c.2671A>C	XP_016873690.1:p.Met891Leu
XM_017018202.1:c.1168A>C	XP_016873691.1:p.Met390Leu
XM_017018204.1:c.559A>C	XP_016873693.1:p.Met187Leu
XM_024448668.1:c.970A>C	XP_024304436.1:p.Met324Leu
XR_001747945.2:n.2743A>C
XR_001747946.2:n.2674A>C
XR_002957189.1:n.2743A>C
NM_000352.6:c.2602A>C MANE Select	NP_000343.2:p.Met868Leu
NM_001287174.2:c.2605A>C	NP_001274103.1:p.Met869Leu
NM_001351295.2:c.2668A>C	NP_001338224.1:p.Met890Leu
NM_001351296.2:c.2602A>C	NP_001338225.1:p.Met868Leu
NM_001351297.2:c.2599A>C	NP_001338226.1:p.Met867Leu
NR_147094.2:n.2671A>C
NM_001287174.3:c.2605A>C	NP_001274103.1:p.Met869Leu