Canonical Allele Identifier: CA1955122931

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953839223
• gnomAD v4: 11-17395115-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395115T>A , CM000673.2:g.17395115T>A	GRCh38
NC_000011.9:g.17416662T>A , CM000673.1:g.17416662T>A	GRCh37
NC_000011.8:g.17373238T>A	NCBI36
NG_008867.1:g.86788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4012+57A>T
ENST00000526037.6:n.346+57A>T
ENST00000528374.2:c.1002+57A>T
ENST00000529967.6:n.2750+57A>T
ENST00000532220.2:n.3644+57A>T
ENST00000642611.2:n.5744+57A>T
ENST00000644057.2:n.987+57A>T
ENST00000645004.2:n.1910+57A>T
ENST00000682051.1:n.4573+57A>T
ENST00000682110.1:n.4626+57A>T
ENST00000682140.1:c.*197+57A>T	ENSP00000507829.1:n.*197+57A>T
ENST00000682185.1:n.5716+57A>T
ENST00000682204.1:c.*2549+57A>T	ENSP00000507094.1:n.*2549+57A>T
ENST00000682215.1:n.4993+57A>T
ENST00000682288.1:c.*2842+57A>T	ENSP00000507506.1:n.*2842+57A>T
ENST00000682442.1:n.4846+57A>T
ENST00000682528.1:n.4703+57A>T
ENST00000682673.1:n.4570+57A>T
ENST00000682805.1:n.5031+57A>T
ENST00000682965.1:c.*833+57A>T	ENSP00000508229.1:n.*833+57A>T
ENST00000683093.1:n.5606+495A>T
ENST00000683136.1:c.4294+57A>T	ENSP00000507768.1:n.4294+57A>T
ENST00000683153.1:n.4668+57A>T
ENST00000683365.1:n.4728+57A>T
ENST00000683377.1:n.4522+495A>T
ENST00000683456.1:c.*1548+57A>T	ENSP00000508318.1:n.*1548+57A>T
ENST00000683522.1:n.4683A>T
ENST00000683562.1:c.*2476+495A>T	ENSP00000508265.1:n.*2476+495A>T
ENST00000683693.1:n.6087+495A>T
ENST00000683725.1:c.4307+495A>T	ENSP00000507496.1:n.4307+495A>T
ENST00000684010.1:n.4621+57A>T
ENST00000684157.1:n.5611+57A>T
ENST00000684253.1:n.4529+57A>T
ENST00000684288.1:c.*2583+57A>T	ENSP00000507143.1:n.*2583+57A>T
ENST00000684313.1:n.4058+57A>T
ENST00000684332.1:n.4699+57A>T
ENST00000684371.1:n.4732+57A>T
ENST00000684404.1:n.5654+57A>T
ENST00000684442.1:n.4850+57A>T
ENST00000684555.1:c.*2623+57A>T	ENSP00000507705.1:n.*2623+57A>T
ENST00000684571.1:c.4252+57A>T	ENSP00000506935.1:n.4252+57A>T
ENST00000684593.1:c.*4116+57A>T	ENSP00000507005.1:n.*4116+57A>T
ENST00000684711.1:c.*2807+57A>T	ENSP00000506841.1:n.*2807+57A>T
ENST00000302539.9:c.4414+57A>T	ENSP00000303960.4:n.4414+57A>T
ENST00000389817.8:c.4411+57A>T MANE Select	ENSP00000374467.4:n.4411+57A>T
ENST00000642271.1:c.4408+57A>T	ENSP00000493749.1:n.4408+57A>T
ENST00000642579.1:c.2465+57A>T
ENST00000642611.1:n.5629+57A>T
ENST00000642902.1:c.4193+57A>T
ENST00000643260.1:c.4411+57A>T	ENSP00000494450.1:n.4411+57A>T
ENST00000643562.1:c.*2533+57A>T	ENSP00000496124.1:n.*2533+57A>T
ENST00000643925.1:c.3051+57A>T
ENST00000644057.1:n.545A>T
ENST00000644484.1:c.*3797+57A>T	ENSP00000493558.1:n.*3797+57A>T
ENST00000644675.1:c.*2583+57A>T	ENSP00000494567.1:n.*2583+57A>T
ENST00000644757.1:c.*3202+1149A>T	ENSP00000495085.1:n.*3202+1149A>T
ENST00000644772.1:c.4477+57A>T	ENSP00000494321.1:n.4477+57A>T
ENST00000645004.1:n.2104+57A>T
ENST00000645076.1:c.3506+495A>T
ENST00000645417.1:c.1599+57A>T
ENST00000645744.1:c.*4096+57A>T	ENSP00000494564.1:n.*4096+57A>T
ENST00000645760.1:c.4832+57A>T
ENST00000645884.1:c.*1694+57A>T	ENSP00000495516.1:n.*1694+57A>T
ENST00000646003.1:c.*2433+57A>T	ENSP00000495259.1:n.*2433+57A>T
ENST00000646207.1:c.*3248+57A>T	ENSP00000495025.1:n.*3248+57A>T
ENST00000646276.1:c.*3815+57A>T	ENSP00000496070.1:n.*3815+57A>T
ENST00000646592.1:c.3717+57A>T
ENST00000646902.1:c.4378+57A>T	ENSP00000494101.1:n.4378+57A>T
ENST00000646993.1:c.*2849+495A>T	ENSP00000493720.1:n.*2849+495A>T
ENST00000647013.1:c.4417+57A>T	ENSP00000496741.1:n.4417+57A>T
ENST00000647015.1:c.4162+57A>T	ENSP00000495389.1:n.4162+57A>T
ENST00000647086.1:c.*3997+57A>T	ENSP00000493677.1:n.*3997+57A>T
ENST00000647158.1:c.*2698+57A>T	ENSP00000495744.1:n.*2698+57A>T
ENST00000302539.8:c.4414+57A>T	ENSP00000303960.4:n.4414+57A>T
ENST00000389817.7:c.4411+57A>T	ENSP00000374467.3:n.4411+57A>T
ENST00000525022.1:n.306+495A>T
ENST00000526037.5:n.171+495A>T
ENST00000526168.5:c.199+57A>T
ENST00000531642.5:c.442+57A>T
NM_000352.4:c.4411+57A>T	NP_000343.2:n.4411+57A>T
NM_001287174.1:c.4414+57A>T	NP_001274103.1:n.4414+57A>T
XM_011520331.1:c.4411+57A>T	XP_011518633.1:n.4411+57A>T
XM_011520332.1:c.4310+495A>T	XP_011518634.1:n.4310+495A>T
XM_011520333.1:c.2911+57A>T	XP_011518635.1:n.2911+57A>T
XR_930890.1:n.4373+495A>T
NM_001351295.1:c.4477+57A>T	NP_001338224.1:n.4477+57A>T
NM_001351296.1:c.4411+57A>T	NP_001338225.1:n.4411+57A>T
NM_001351297.1:c.4408+57A>T	NP_001338226.1:n.4408+57A>T
NR_147094.1:n.4706+57A>T
XM_017018197.2:c.4480+57A>T	XP_016873686.1:n.4480+57A>T
XM_017018199.1:c.4477+57A>T	XP_016873688.1:n.4477+57A>T
XM_017018201.2:c.4376+495A>T	XP_016873690.1:n.4376+495A>T
XM_017018202.1:c.2977+57A>T	XP_016873691.1:n.2977+57A>T
XM_017018204.1:c.2368+57A>T	XP_016873693.1:n.2368+57A>T
XM_024448668.1:c.2779+57A>T	XP_024304436.1:n.2779+57A>T
XR_001747945.2:n.4448+495A>T
XR_001747946.2:n.4379+495A>T
XR_002957189.1:n.6162+495A>T
NM_000352.6:c.4411+57A>T MANE Select	NP_000343.2:n.4411+57A>T
NM_001287174.2:c.4414+57A>T	NP_001274103.1:n.4414+57A>T
NM_001351295.2:c.4477+57A>T	NP_001338224.1:n.4477+57A>T
NM_001351296.2:c.4411+57A>T	NP_001338225.1:n.4411+57A>T
NM_001351297.2:c.4408+57A>T	NP_001338226.1:n.4408+57A>T
NR_147094.2:n.4706+57A>T
NM_001287174.3:c.4414+57A>T	NP_001274103.1:n.4414+57A>T