Canonical Allele Identifier: CA2612639025

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395783-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395783C>A , CM000673.2:g.17395783C>A	GRCh38
NC_000011.9:g.17417330C>A , CM000673.1:g.17417330C>A	GRCh37
NC_000011.8:g.17373906C>A	NCBI36
NG_008867.1:g.86120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3800-65G>T
ENST00000528374.2:c.790-65G>T
ENST00000529967.6:n.2538-65G>T
ENST00000532220.2:n.3432-65G>T
ENST00000642611.2:n.5467G>T
ENST00000644057.2:n.710G>T
ENST00000645004.2:n.1698-65G>T
ENST00000682051.1:n.4361-65G>T
ENST00000682110.1:n.4414-65G>T
ENST00000682140.1:c.4065-65G>T	ENSP00000507829.1:n.4065-65G>T
ENST00000682185.1:n.5504-65G>T
ENST00000682204.1:c.*2337-65G>T	ENSP00000507094.1:n.*2337-65G>T
ENST00000682215.1:n.4781-65G>T
ENST00000682288.1:c.*2630-65G>T	ENSP00000507506.1:n.*2630-65G>T
ENST00000682442.1:n.4634-65G>T
ENST00000682528.1:n.4491-65G>T
ENST00000682673.1:n.4358-65G>T
ENST00000682805.1:n.4819-65G>T
ENST00000682965.1:c.*621-65G>T	ENSP00000508229.1:n.*621-65G>T
ENST00000683093.1:n.5498-65G>T
ENST00000683136.1:c.4082-65G>T	ENSP00000507768.1:n.4082-65G>T
ENST00000683153.1:n.4456-65G>T
ENST00000683365.1:n.4516-65G>T
ENST00000683377.1:n.4414-65G>T
ENST00000683456.1:c.*1336-65G>T	ENSP00000508318.1:n.*1336-65G>T
ENST00000683522.1:n.4414-65G>T
ENST00000683562.1:c.*2368-65G>T	ENSP00000508265.1:n.*2368-65G>T
ENST00000683693.1:n.5914G>T
ENST00000683725.1:c.4199-65G>T	ENSP00000507496.1:n.4199-65G>T
ENST00000684010.1:n.4409-65G>T
ENST00000684157.1:n.5399-65G>T
ENST00000684253.1:n.4317-65G>T
ENST00000684288.1:c.*2371-65G>T	ENSP00000507143.1:n.*2371-65G>T
ENST00000684313.1:n.3846-65G>T
ENST00000684332.1:n.4487-65G>T
ENST00000684371.1:n.4520-65G>T
ENST00000684404.1:n.5442-65G>T
ENST00000684442.1:n.4638-65G>T
ENST00000684555.1:c.*2411-65G>T	ENSP00000507705.1:n.*2411-65G>T
ENST00000684571.1:c.4040-65G>T	ENSP00000506935.1:n.4040-65G>T
ENST00000684593.1:c.*3904-65G>T	ENSP00000507005.1:n.*3904-65G>T
ENST00000684711.1:c.*2595-65G>T	ENSP00000506841.1:n.*2595-65G>T
ENST00000302539.9:c.4202-65G>T	ENSP00000303960.4:n.4202-65G>T
ENST00000389817.8:c.4199-65G>T MANE Select	ENSP00000374467.4:n.4199-65G>T
ENST00000642271.1:c.4196-65G>T	ENSP00000493749.1:n.4196-65G>T
ENST00000642579.1:c.2253-65G>T
ENST00000642611.1:n.5352G>T
ENST00000642902.1:c.3981-65G>T
ENST00000643260.1:c.4199-65G>T	ENSP00000494450.1:n.4199-65G>T
ENST00000643562.1:c.*2321-65G>T	ENSP00000496124.1:n.*2321-65G>T
ENST00000643925.1:c.2839-65G>T
ENST00000644057.1:n.276-65G>T
ENST00000644484.1:c.*3585-65G>T	ENSP00000493558.1:n.*3585-65G>T
ENST00000644675.1:c.*2371-65G>T	ENSP00000494567.1:n.*2371-65G>T
ENST00000644757.1:c.*3202+481G>T	ENSP00000495085.1:n.*3202+481G>T
ENST00000644772.1:c.4265-65G>T	ENSP00000494321.1:n.4265-65G>T
ENST00000645004.1:n.1892-65G>T
ENST00000645076.1:c.3398-65G>T
ENST00000645417.1:c.1387-65G>T
ENST00000645744.1:c.*3963+69G>T	ENSP00000494564.1:n.*3963+69G>T
ENST00000645760.1:c.4620-65G>T
ENST00000645884.1:c.*1482-65G>T	ENSP00000495516.1:n.*1482-65G>T
ENST00000646003.1:c.*2300+69G>T	ENSP00000495259.1:n.*2300+69G>T
ENST00000646207.1:c.*3036-65G>T	ENSP00000495025.1:n.*3036-65G>T
ENST00000646276.1:c.*3603-65G>T	ENSP00000496070.1:n.*3603-65G>T
ENST00000646592.1:c.3505-65G>T
ENST00000646902.1:c.4166-65G>T	ENSP00000494101.1:n.4166-65G>T
ENST00000646993.1:c.*2741-65G>T	ENSP00000493720.1:n.*2741-65G>T
ENST00000647013.1:c.4205-65G>T	ENSP00000496741.1:n.4205-65G>T
ENST00000647015.1:c.3950-65G>T	ENSP00000495389.1:n.3950-65G>T
ENST00000647086.1:c.*3785-65G>T	ENSP00000493677.1:n.*3785-65G>T
ENST00000647158.1:c.*2486-65G>T	ENSP00000495744.1:n.*2486-65G>T
ENST00000302539.8:c.4202-65G>T	ENSP00000303960.4:n.4202-65G>T
ENST00000389817.7:c.4199-65G>T	ENSP00000374467.3:n.4199-65G>T
ENST00000525022.1:n.133G>T
ENST00000526168.5:c.66+69G>T
ENST00000531642.5:c.35-65G>T
NM_000352.4:c.4199-65G>T	NP_000343.2:n.4199-65G>T
NM_001287174.1:c.4202-65G>T	NP_001274103.1:n.4202-65G>T
XM_011520331.1:c.4199-65G>T	XP_011518633.1:n.4199-65G>T
XM_011520332.1:c.4202-65G>T	XP_011518634.1:n.4202-65G>T
XM_011520333.1:c.2699-65G>T	XP_011518635.1:n.2699-65G>T
XR_930890.1:n.4265-65G>T
NM_001351295.1:c.4265-65G>T	NP_001338224.1:n.4265-65G>T
NM_001351296.1:c.4199-65G>T	NP_001338225.1:n.4199-65G>T
NM_001351297.1:c.4196-65G>T	NP_001338226.1:n.4196-65G>T
NR_147094.1:n.4494-65G>T
XM_017018197.2:c.4268-65G>T	XP_016873686.1:n.4268-65G>T
XM_017018199.1:c.4265-65G>T	XP_016873688.1:n.4265-65G>T
XM_017018201.2:c.4268-65G>T	XP_016873690.1:n.4268-65G>T
XM_017018202.1:c.2765-65G>T	XP_016873691.1:n.2765-65G>T
XM_017018204.1:c.2156-65G>T	XP_016873693.1:n.2156-65G>T
XM_024448668.1:c.2567-65G>T	XP_024304436.1:n.2567-65G>T
XR_001747945.2:n.4340-65G>T
XR_001747946.2:n.4271-65G>T
XR_002957189.1:n.5989G>T
NM_000352.6:c.4199-65G>T MANE Select	NP_000343.2:n.4199-65G>T
NM_001287174.2:c.4202-65G>T	NP_001274103.1:n.4202-65G>T
NM_001351295.2:c.4265-65G>T	NP_001338224.1:n.4265-65G>T
NM_001351296.2:c.4199-65G>T	NP_001338225.1:n.4199-65G>T
NM_001351297.2:c.4196-65G>T	NP_001338226.1:n.4196-65G>T
NR_147094.2:n.4494-65G>T
NM_001287174.3:c.4202-65G>T	NP_001274103.1:n.4202-65G>T