Canonical Allele Identifier: CA2612638957

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395722-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395722C>A , CM000673.2:g.17395722C>A	GRCh38
NC_000011.9:g.17417269C>A , CM000673.1:g.17417269C>A	GRCh37
NC_000011.8:g.17373845C>A	NCBI36
NG_008867.1:g.86181G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3800-4G>T
ENST00000528374.2:c.790-4G>T
ENST00000529967.6:n.2538-4G>T
ENST00000532220.2:n.3432-4G>T
ENST00000642611.2:n.5528G>T
ENST00000644057.2:n.771G>T
ENST00000645004.2:n.1698-4G>T
ENST00000682051.1:n.4361-4G>T
ENST00000682110.1:n.4414-4G>T
ENST00000682140.1:c.4065-4G>T	ENSP00000507829.1:n.4065-4G>T
ENST00000682185.1:n.5504-4G>T
ENST00000682204.1:c.*2337-4G>T	ENSP00000507094.1:n.*2337-4G>T
ENST00000682215.1:n.4781-4G>T
ENST00000682288.1:c.*2630-4G>T	ENSP00000507506.1:n.*2630-4G>T
ENST00000682442.1:n.4634-4G>T
ENST00000682528.1:n.4491-4G>T
ENST00000682673.1:n.4358-4G>T
ENST00000682805.1:n.4819-4G>T
ENST00000682965.1:c.*621-4G>T	ENSP00000508229.1:n.*621-4G>T
ENST00000683093.1:n.5498-4G>T
ENST00000683136.1:c.4082-4G>T	ENSP00000507768.1:n.4082-4G>T
ENST00000683153.1:n.4456-4G>T
ENST00000683365.1:n.4516-4G>T
ENST00000683377.1:n.4414-4G>T
ENST00000683456.1:c.*1336-4G>T	ENSP00000508318.1:n.*1336-4G>T
ENST00000683522.1:n.4414-4G>T
ENST00000683562.1:c.*2368-4G>T	ENSP00000508265.1:n.*2368-4G>T
ENST00000683693.1:n.5975G>T
ENST00000683725.1:c.4199-4G>T	ENSP00000507496.1:n.4199-4G>T
ENST00000684010.1:n.4409-4G>T
ENST00000684157.1:n.5399-4G>T
ENST00000684253.1:n.4317-4G>T
ENST00000684288.1:c.*2371-4G>T	ENSP00000507143.1:n.*2371-4G>T
ENST00000684313.1:n.3846-4G>T
ENST00000684332.1:n.4487-4G>T
ENST00000684371.1:n.4520-4G>T
ENST00000684404.1:n.5442-4G>T
ENST00000684442.1:n.4638-4G>T
ENST00000684555.1:c.*2411-4G>T	ENSP00000507705.1:n.*2411-4G>T
ENST00000684571.1:c.4040-4G>T	ENSP00000506935.1:n.4040-4G>T
ENST00000684593.1:c.*3904-4G>T	ENSP00000507005.1:n.*3904-4G>T
ENST00000684711.1:c.*2595-4G>T	ENSP00000506841.1:n.*2595-4G>T
ENST00000302539.9:c.4202-4G>T	ENSP00000303960.4:n.4202-4G>T
ENST00000389817.8:c.4199-4G>T MANE Select	ENSP00000374467.4:n.4199-4G>T
ENST00000642271.1:c.4196-4G>T	ENSP00000493749.1:n.4196-4G>T
ENST00000642579.1:c.2253-4G>T
ENST00000642611.1:n.5413G>T
ENST00000642902.1:c.3981-4G>T
ENST00000643260.1:c.4199-4G>T	ENSP00000494450.1:n.4199-4G>T
ENST00000643562.1:c.*2321-4G>T	ENSP00000496124.1:n.*2321-4G>T
ENST00000643925.1:c.2839-4G>T
ENST00000644057.1:n.276-4G>T
ENST00000644484.1:c.*3585-4G>T	ENSP00000493558.1:n.*3585-4G>T
ENST00000644675.1:c.*2371-4G>T	ENSP00000494567.1:n.*2371-4G>T
ENST00000644757.1:c.*3202+542G>T	ENSP00000495085.1:n.*3202+542G>T
ENST00000644772.1:c.4265-4G>T	ENSP00000494321.1:n.4265-4G>T
ENST00000645004.1:n.1892-4G>T
ENST00000645076.1:c.3398-4G>T
ENST00000645417.1:c.1387-4G>T
ENST00000645744.1:c.*3964-84G>T	ENSP00000494564.1:n.*3964-84G>T
ENST00000645760.1:c.4620-4G>T
ENST00000645884.1:c.*1482-4G>T	ENSP00000495516.1:n.*1482-4G>T
ENST00000646003.1:c.*2301-84G>T	ENSP00000495259.1:n.*2301-84G>T
ENST00000646207.1:c.*3036-4G>T	ENSP00000495025.1:n.*3036-4G>T
ENST00000646276.1:c.*3603-4G>T	ENSP00000496070.1:n.*3603-4G>T
ENST00000646592.1:c.3505-4G>T
ENST00000646902.1:c.4166-4G>T	ENSP00000494101.1:n.4166-4G>T
ENST00000646993.1:c.*2741-4G>T	ENSP00000493720.1:n.*2741-4G>T
ENST00000647013.1:c.4205-4G>T	ENSP00000496741.1:n.4205-4G>T
ENST00000647015.1:c.3950-4G>T	ENSP00000495389.1:n.3950-4G>T
ENST00000647086.1:c.*3785-4G>T	ENSP00000493677.1:n.*3785-4G>T
ENST00000647158.1:c.*2486-4G>T	ENSP00000495744.1:n.*2486-4G>T
ENST00000302539.8:c.4202-4G>T	ENSP00000303960.4:n.4202-4G>T
ENST00000389817.7:c.4199-4G>T	ENSP00000374467.3:n.4199-4G>T
ENST00000525022.1:n.194G>T
ENST00000526037.5:n.59G>T
ENST00000526168.5:c.67-84G>T
ENST00000531642.5:c.35-4G>T
NM_000352.4:c.4199-4G>T	NP_000343.2:n.4199-4G>T
NM_001287174.1:c.4202-4G>T	NP_001274103.1:n.4202-4G>T
XM_011520331.1:c.4199-4G>T	XP_011518633.1:n.4199-4G>T
XM_011520332.1:c.4202-4G>T	XP_011518634.1:n.4202-4G>T
XM_011520333.1:c.2699-4G>T	XP_011518635.1:n.2699-4G>T
XR_930890.1:n.4265-4G>T
NM_001351295.1:c.4265-4G>T	NP_001338224.1:n.4265-4G>T
NM_001351296.1:c.4199-4G>T	NP_001338225.1:n.4199-4G>T
NM_001351297.1:c.4196-4G>T	NP_001338226.1:n.4196-4G>T
NR_147094.1:n.4494-4G>T
XM_017018197.2:c.4268-4G>T	XP_016873686.1:n.4268-4G>T
XM_017018199.1:c.4265-4G>T	XP_016873688.1:n.4265-4G>T
XM_017018201.2:c.4268-4G>T	XP_016873690.1:n.4268-4G>T
XM_017018202.1:c.2765-4G>T	XP_016873691.1:n.2765-4G>T
XM_017018204.1:c.2156-4G>T	XP_016873693.1:n.2156-4G>T
XM_024448668.1:c.2567-4G>T	XP_024304436.1:n.2567-4G>T
XR_001747945.2:n.4340-4G>T
XR_001747946.2:n.4271-4G>T
XR_002957189.1:n.6050G>T
NM_000352.6:c.4199-4G>T MANE Select	NP_000343.2:n.4199-4G>T
NM_001287174.2:c.4202-4G>T	NP_001274103.1:n.4202-4G>T
NM_001351295.2:c.4265-4G>T	NP_001338224.1:n.4265-4G>T
NM_001351296.2:c.4199-4G>T	NP_001338225.1:n.4199-4G>T
NM_001351297.2:c.4196-4G>T	NP_001338226.1:n.4196-4G>T
NR_147094.2:n.4494-4G>T
NM_001287174.3:c.4202-4G>T	NP_001274103.1:n.4202-4G>T