Canonical Allele Identifier: CA379806150

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432102T>G (hg19) ; chr11:g.17410555T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410555T>G , CM000673.2:g.17410555T>G	GRCh38
NC_000011.9:g.17432102T>G , CM000673.1:g.17432102T>G	GRCh37
NC_000011.8:g.17388678T>G	NCBI36
NG_008867.1:g.71348A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2324A>C
ENST00000529967.6:n.914A>C
ENST00000642611.2:n.2724A>C
ENST00000682051.1:n.2671A>C
ENST00000682110.1:n.2724A>C
ENST00000682140.1:c.2652A>C	ENSP00000507829.1:p.Leu884Phe
ENST00000682185.1:n.3960A>C
ENST00000682204.1:c.*793A>C	ENSP00000507094.1:n.*793A>C
ENST00000682215.1:n.2721A>C
ENST00000682288.1:c.*1086A>C	ENSP00000507506.1:n.*1086A>C
ENST00000682442.1:n.2845A>C
ENST00000682528.1:n.2721A>C
ENST00000682673.1:n.2668A>C
ENST00000682805.1:n.2721A>C
ENST00000682965.1:c.2652A>C	ENSP00000508229.1:p.Leu884Phe
ENST00000683093.1:n.2823A>C
ENST00000683136.1:c.2652A>C	ENSP00000507768.1:p.Leu884Phe
ENST00000683153.1:n.2880A>C
ENST00000683365.1:n.2826A>C
ENST00000683377.1:n.2724A>C
ENST00000683456.1:c.2655A>C	ENSP00000508318.1:p.Leu885Phe
ENST00000683522.1:n.2724A>C
ENST00000683562.1:c.*824A>C	ENSP00000508265.1:n.*824A>C
ENST00000683693.1:n.2721A>C
ENST00000683725.1:c.2655A>C	ENSP00000507496.1:p.Leu885Phe
ENST00000684010.1:n.2639A>C
ENST00000684157.1:n.2724A>C
ENST00000684253.1:n.2627A>C
ENST00000684288.1:c.*827A>C	ENSP00000507143.1:n.*827A>C
ENST00000684313.1:n.2156A>C
ENST00000684332.1:n.2797A>C
ENST00000684371.1:n.2830A>C
ENST00000684404.1:n.2721A>C
ENST00000684442.1:n.2724A>C
ENST00000684555.1:c.*867A>C	ENSP00000507705.1:n.*867A>C
ENST00000684571.1:c.2496A>C	ENSP00000506935.1:p.Leu832Phe
ENST00000684593.1:c.*2360A>C	ENSP00000507005.1:n.*2360A>C
ENST00000684711.1:c.*1051A>C	ENSP00000506841.1:n.*1051A>C
ENST00000302539.9:c.2658A>C	ENSP00000303960.4:p.Leu886Phe
ENST00000389817.8:c.2655A>C MANE Select	ENSP00000374467.4:p.Leu885Phe
ENST00000642271.1:c.2652A>C	ENSP00000493749.1:p.Leu884Phe
ENST00000642579.1:c.739A>C
ENST00000642611.1:n.2609A>C
ENST00000642902.1:c.2490A>C
ENST00000643260.1:c.2655A>C	ENSP00000494450.1:p.Leu885Phe
ENST00000643562.1:c.*631A>C	ENSP00000496124.1:n.*631A>C
ENST00000643925.1:c.699A>C
ENST00000644447.1:c.1011A>C	ENSP00000496282.1:p.Leu337Phe
ENST00000644472.1:c.*1016A>C	ENSP00000495378.1:n.*1016A>C
ENST00000644484.1:c.*864A>C	ENSP00000493558.1:n.*864A>C
ENST00000644542.1:c.*2360A>C	ENSP00000495532.1:n.*2360A>C
ENST00000644675.1:c.*827A>C	ENSP00000494567.1:n.*827A>C
ENST00000644757.1:c.*960A>C	ENSP00000495085.1:n.*960A>C
ENST00000644772.1:c.2721A>C	ENSP00000494321.1:p.Leu907Phe
ENST00000645076.1:c.1907A>C
ENST00000645744.1:c.*1019A>C	ENSP00000494564.1:n.*1019A>C
ENST00000645760.1:c.2930A>C
ENST00000645884.1:c.2655A>C	ENSP00000495516.1:p.Leu885Phe
ENST00000646003.1:c.*711A>C	ENSP00000495259.1:n.*711A>C
ENST00000646207.1:c.*1019A>C	ENSP00000495025.1:n.*1019A>C
ENST00000646276.1:c.*928A>C	ENSP00000496070.1:n.*928A>C
ENST00000646592.1:c.1881A>C
ENST00000646902.1:c.2652A>C	ENSP00000494101.1:p.Leu884Phe
ENST00000646993.1:c.*1051A>C	ENSP00000493720.1:n.*1051A>C
ENST00000647013.1:c.2661A>C	ENSP00000496741.1:n.2661A>C
ENST00000647015.1:c.2406A>C	ENSP00000495389.1:p.Leu802Phe
ENST00000647086.1:c.*2385A>C	ENSP00000493677.1:n.*2385A>C
ENST00000647158.1:c.*796A>C	ENSP00000495744.1:n.*796A>C
ENST00000302539.8:c.2658A>C	ENSP00000303960.4:p.Leu886Phe
ENST00000389817.7:c.2655A>C	ENSP00000374467.3:p.Leu885Phe
ENST00000526921.5:n.339A>C
ENST00000527905.5:c.2625A>C	ENSP00000431653.1:p.Leu875Phe
ENST00000529967.5:n.324A>C
ENST00000530147.5:n.238A>C
NM_000352.4:c.2655A>C	NP_000343.2:p.Leu885Phe
NM_001287174.1:c.2658A>C	NP_001274103.1:p.Leu886Phe
XM_011520331.1:c.2655A>C	XP_011518633.1:p.Leu885Phe
XM_011520332.1:c.2658A>C	XP_011518634.1:p.Leu886Phe
XM_011520333.1:c.1155A>C	XP_011518635.1:p.Leu385Phe
XM_011520334.1:c.2658A>C	XP_011518636.1:p.Leu886Phe
XR_930890.1:n.2721A>C
XR_930891.1:n.2721A>C
XR_930892.1:n.2721A>C
XR_930893.1:n.2718A>C
NM_001351295.1:c.2721A>C	NP_001338224.1:p.Leu907Phe
NM_001351296.1:c.2655A>C	NP_001338225.1:p.Leu885Phe
NM_001351297.1:c.2652A>C	NP_001338226.1:p.Leu884Phe
NR_147094.1:n.2724A>C
XM_017018197.2:c.2724A>C	XP_016873686.1:p.Leu908Phe
XM_017018199.1:c.2721A>C	XP_016873688.1:p.Leu907Phe
XM_017018201.2:c.2724A>C	XP_016873690.1:p.Leu908Phe
XM_017018202.1:c.1221A>C	XP_016873691.1:p.Leu407Phe
XM_017018204.1:c.612A>C	XP_016873693.1:p.Leu204Phe
XM_024448668.1:c.1023A>C	XP_024304436.1:p.Leu341Phe
XR_001747945.2:n.2796A>C
XR_001747946.2:n.2727A>C
XR_002957189.1:n.2796A>C
NM_000352.6:c.2655A>C MANE Select	NP_000343.2:p.Leu885Phe
NM_001287174.2:c.2658A>C	NP_001274103.1:p.Leu886Phe
NM_001351295.2:c.2721A>C	NP_001338224.1:p.Leu907Phe
NM_001351296.2:c.2655A>C	NP_001338225.1:p.Leu885Phe
NM_001351297.2:c.2652A>C	NP_001338226.1:p.Leu884Phe
NR_147094.2:n.2724A>C
NM_001287174.3:c.2658A>C	NP_001274103.1:p.Leu886Phe