Canonical Allele Identifier: CA2612639018

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395760-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395760G>A , CM000673.2:g.17395760G>A	GRCh38
NC_000011.9:g.17417307G>A , CM000673.1:g.17417307G>A	GRCh37
NC_000011.8:g.17373883G>A	NCBI36
NG_008867.1:g.86143C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3800-42C>T
ENST00000528374.2:c.790-42C>T
ENST00000529967.6:n.2538-42C>T
ENST00000532220.2:n.3432-42C>T
ENST00000642611.2:n.5490C>T
ENST00000644057.2:n.733C>T
ENST00000645004.2:n.1698-42C>T
ENST00000682051.1:n.4361-42C>T
ENST00000682110.1:n.4414-42C>T
ENST00000682140.1:c.4065-42C>T	ENSP00000507829.1:n.4065-42C>T
ENST00000682185.1:n.5504-42C>T
ENST00000682204.1:c.*2337-42C>T	ENSP00000507094.1:n.*2337-42C>T
ENST00000682215.1:n.4781-42C>T
ENST00000682288.1:c.*2630-42C>T	ENSP00000507506.1:n.*2630-42C>T
ENST00000682442.1:n.4634-42C>T
ENST00000682528.1:n.4491-42C>T
ENST00000682673.1:n.4358-42C>T
ENST00000682805.1:n.4819-42C>T
ENST00000682965.1:c.*621-42C>T	ENSP00000508229.1:n.*621-42C>T
ENST00000683093.1:n.5498-42C>T
ENST00000683136.1:c.4082-42C>T	ENSP00000507768.1:n.4082-42C>T
ENST00000683153.1:n.4456-42C>T
ENST00000683365.1:n.4516-42C>T
ENST00000683377.1:n.4414-42C>T
ENST00000683456.1:c.*1336-42C>T	ENSP00000508318.1:n.*1336-42C>T
ENST00000683522.1:n.4414-42C>T
ENST00000683562.1:c.*2368-42C>T	ENSP00000508265.1:n.*2368-42C>T
ENST00000683693.1:n.5937C>T
ENST00000683725.1:c.4199-42C>T	ENSP00000507496.1:n.4199-42C>T
ENST00000684010.1:n.4409-42C>T
ENST00000684157.1:n.5399-42C>T
ENST00000684253.1:n.4317-42C>T
ENST00000684288.1:c.*2371-42C>T	ENSP00000507143.1:n.*2371-42C>T
ENST00000684313.1:n.3846-42C>T
ENST00000684332.1:n.4487-42C>T
ENST00000684371.1:n.4520-42C>T
ENST00000684404.1:n.5442-42C>T
ENST00000684442.1:n.4638-42C>T
ENST00000684555.1:c.*2411-42C>T	ENSP00000507705.1:n.*2411-42C>T
ENST00000684571.1:c.4040-42C>T	ENSP00000506935.1:n.4040-42C>T
ENST00000684593.1:c.*3904-42C>T	ENSP00000507005.1:n.*3904-42C>T
ENST00000684711.1:c.*2595-42C>T	ENSP00000506841.1:n.*2595-42C>T
ENST00000302539.9:c.4202-42C>T	ENSP00000303960.4:n.4202-42C>T
ENST00000389817.8:c.4199-42C>T MANE Select	ENSP00000374467.4:n.4199-42C>T
ENST00000642271.1:c.4196-42C>T	ENSP00000493749.1:n.4196-42C>T
ENST00000642579.1:c.2253-42C>T
ENST00000642611.1:n.5375C>T
ENST00000642902.1:c.3981-42C>T
ENST00000643260.1:c.4199-42C>T	ENSP00000494450.1:n.4199-42C>T
ENST00000643562.1:c.*2321-42C>T	ENSP00000496124.1:n.*2321-42C>T
ENST00000643925.1:c.2839-42C>T
ENST00000644057.1:n.276-42C>T
ENST00000644484.1:c.*3585-42C>T	ENSP00000493558.1:n.*3585-42C>T
ENST00000644675.1:c.*2371-42C>T	ENSP00000494567.1:n.*2371-42C>T
ENST00000644757.1:c.*3202+504C>T	ENSP00000495085.1:n.*3202+504C>T
ENST00000644772.1:c.4265-42C>T	ENSP00000494321.1:n.4265-42C>T
ENST00000645004.1:n.1892-42C>T
ENST00000645076.1:c.3398-42C>T
ENST00000645417.1:c.1387-42C>T
ENST00000645744.1:c.*3963+92C>T	ENSP00000494564.1:n.*3963+92C>T
ENST00000645760.1:c.4620-42C>T
ENST00000645884.1:c.*1482-42C>T	ENSP00000495516.1:n.*1482-42C>T
ENST00000646003.1:c.*2300+92C>T	ENSP00000495259.1:n.*2300+92C>T
ENST00000646207.1:c.*3036-42C>T	ENSP00000495025.1:n.*3036-42C>T
ENST00000646276.1:c.*3603-42C>T	ENSP00000496070.1:n.*3603-42C>T
ENST00000646592.1:c.3505-42C>T
ENST00000646902.1:c.4166-42C>T	ENSP00000494101.1:n.4166-42C>T
ENST00000646993.1:c.*2741-42C>T	ENSP00000493720.1:n.*2741-42C>T
ENST00000647013.1:c.4205-42C>T	ENSP00000496741.1:n.4205-42C>T
ENST00000647015.1:c.3950-42C>T	ENSP00000495389.1:n.3950-42C>T
ENST00000647086.1:c.*3785-42C>T	ENSP00000493677.1:n.*3785-42C>T
ENST00000647158.1:c.*2486-42C>T	ENSP00000495744.1:n.*2486-42C>T
ENST00000302539.8:c.4202-42C>T	ENSP00000303960.4:n.4202-42C>T
ENST00000389817.7:c.4199-42C>T	ENSP00000374467.3:n.4199-42C>T
ENST00000525022.1:n.156C>T
ENST00000526037.5:n.21C>T
ENST00000526168.5:c.66+92C>T
ENST00000531642.5:c.35-42C>T
NM_000352.4:c.4199-42C>T	NP_000343.2:n.4199-42C>T
NM_001287174.1:c.4202-42C>T	NP_001274103.1:n.4202-42C>T
XM_011520331.1:c.4199-42C>T	XP_011518633.1:n.4199-42C>T
XM_011520332.1:c.4202-42C>T	XP_011518634.1:n.4202-42C>T
XM_011520333.1:c.2699-42C>T	XP_011518635.1:n.2699-42C>T
XR_930890.1:n.4265-42C>T
NM_001351295.1:c.4265-42C>T	NP_001338224.1:n.4265-42C>T
NM_001351296.1:c.4199-42C>T	NP_001338225.1:n.4199-42C>T
NM_001351297.1:c.4196-42C>T	NP_001338226.1:n.4196-42C>T
NR_147094.1:n.4494-42C>T
XM_017018197.2:c.4268-42C>T	XP_016873686.1:n.4268-42C>T
XM_017018199.1:c.4265-42C>T	XP_016873688.1:n.4265-42C>T
XM_017018201.2:c.4268-42C>T	XP_016873690.1:n.4268-42C>T
XM_017018202.1:c.2765-42C>T	XP_016873691.1:n.2765-42C>T
XM_017018204.1:c.2156-42C>T	XP_016873693.1:n.2156-42C>T
XM_024448668.1:c.2567-42C>T	XP_024304436.1:n.2567-42C>T
XR_001747945.2:n.4340-42C>T
XR_001747946.2:n.4271-42C>T
XR_002957189.1:n.6012C>T
NM_000352.6:c.4199-42C>T MANE Select	NP_000343.2:n.4199-42C>T
NM_001287174.2:c.4202-42C>T	NP_001274103.1:n.4202-42C>T
NM_001351295.2:c.4265-42C>T	NP_001338224.1:n.4265-42C>T
NM_001351296.2:c.4199-42C>T	NP_001338225.1:n.4199-42C>T
NM_001351297.2:c.4196-42C>T	NP_001338226.1:n.4196-42C>T
NR_147094.2:n.4494-42C>T
NM_001287174.3:c.4202-42C>T	NP_001274103.1:n.4202-42C>T