Canonical Allele Identifier: CA2612642111

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396742-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396742A>G , CM000673.2:g.17396742A>G	GRCh38
NC_000011.9:g.17418289A>G , CM000673.1:g.17418289A>G	GRCh37
NC_000011.8:g.17374865A>G	NCBI36
NG_008867.1:g.85161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3720+174T>C
ENST00000528374.2:c.710+174T>C
ENST00000529967.6:n.2458+174T>C
ENST00000532220.2:n.2541T>C
ENST00000642611.2:n.4508T>C
ENST00000644057.2:n.562+174T>C
ENST00000645004.2:n.1618+174T>C
ENST00000682051.1:n.4281+174T>C
ENST00000682110.1:n.4334+174T>C
ENST00000682140.1:c.3985+451T>C	ENSP00000507829.1:n.3985+451T>C
ENST00000682185.1:n.5424+174T>C
ENST00000682204.1:c.*2257+174T>C	ENSP00000507094.1:n.*2257+174T>C
ENST00000682215.1:n.4701+174T>C
ENST00000682288.1:c.*2550+174T>C	ENSP00000507506.1:n.*2550+174T>C
ENST00000682442.1:n.4554+174T>C
ENST00000682528.1:n.4411+174T>C
ENST00000682673.1:n.4278+174T>C
ENST00000682805.1:n.4739+136T>C
ENST00000682965.1:c.*541+174T>C	ENSP00000508229.1:n.*541+174T>C
ENST00000683093.1:n.4607T>C
ENST00000683136.1:c.4002+174T>C	ENSP00000507768.1:n.4002+174T>C
ENST00000683153.1:n.4376+174T>C
ENST00000683365.1:n.4436+174T>C
ENST00000683377.1:n.4334+174T>C
ENST00000683456.1:c.*1256+174T>C	ENSP00000508318.1:n.*1256+174T>C
ENST00000683522.1:n.4334+174T>C
ENST00000683562.1:c.*2288+174T>C	ENSP00000508265.1:n.*2288+174T>C
ENST00000683693.1:n.4955T>C
ENST00000683725.1:c.4119+174T>C	ENSP00000507496.1:n.4119+174T>C
ENST00000684010.1:n.4329+174T>C
ENST00000684157.1:n.4508T>C
ENST00000684253.1:n.4237+174T>C
ENST00000684288.1:c.*2291+174T>C	ENSP00000507143.1:n.*2291+174T>C
ENST00000684313.1:n.3766+174T>C
ENST00000684332.1:n.4407+174T>C
ENST00000684371.1:n.4440+174T>C
ENST00000684404.1:n.4551T>C
ENST00000684442.1:n.4558+174T>C
ENST00000684555.1:c.*2331+174T>C	ENSP00000507705.1:n.*2331+174T>C
ENST00000684571.1:c.3960+174T>C	ENSP00000506935.1:n.3960+174T>C
ENST00000684593.1:c.*3824+174T>C	ENSP00000507005.1:n.*3824+174T>C
ENST00000684711.1:c.*2515+174T>C	ENSP00000506841.1:n.*2515+174T>C
ENST00000302539.9:c.4122+174T>C	ENSP00000303960.4:n.4122+174T>C
ENST00000389817.8:c.4119+174T>C MANE Select	ENSP00000374467.4:n.4119+174T>C
ENST00000642271.1:c.4116+174T>C	ENSP00000493749.1:n.4116+174T>C
ENST00000642579.1:c.2173+174T>C
ENST00000642611.1:n.4393T>C
ENST00000642902.1:c.3901+174T>C
ENST00000643260.1:c.4119+174T>C	ENSP00000494450.1:n.4119+174T>C
ENST00000643562.1:c.*2241+174T>C	ENSP00000496124.1:n.*2241+174T>C
ENST00000643925.1:c.2759+174T>C
ENST00000644057.1:n.196+174T>C
ENST00000644484.1:c.*2694T>C	ENSP00000493558.1:n.*2694T>C
ENST00000644675.1:c.*2291+174T>C	ENSP00000494567.1:n.*2291+174T>C
ENST00000644757.1:c.*2724T>C	ENSP00000495085.1:n.*2724T>C
ENST00000644772.1:c.4185+174T>C	ENSP00000494321.1:n.4185+174T>C
ENST00000645004.1:n.1812+136T>C
ENST00000645076.1:c.3318+174T>C
ENST00000645417.1:c.1307+174T>C
ENST00000645744.1:c.*3073T>C	ENSP00000494564.1:n.*3073T>C
ENST00000645760.1:c.4540+174T>C
ENST00000645884.1:c.*1402+174T>C	ENSP00000495516.1:n.*1402+174T>C
ENST00000646003.1:c.*2221+174T>C	ENSP00000495259.1:n.*2221+174T>C
ENST00000646207.1:c.*2956+174T>C	ENSP00000495025.1:n.*2956+174T>C
ENST00000646276.1:c.*2712T>C	ENSP00000496070.1:n.*2712T>C
ENST00000646592.1:c.3425+174T>C
ENST00000646902.1:c.4086+174T>C	ENSP00000494101.1:n.4086+174T>C
ENST00000646993.1:c.*2661+174T>C	ENSP00000493720.1:n.*2661+174T>C
ENST00000647013.1:c.4125+174T>C	ENSP00000496741.1:n.4125+174T>C
ENST00000647015.1:c.3870+174T>C	ENSP00000495389.1:n.3870+174T>C
ENST00000647086.1:c.*3705+174T>C	ENSP00000493677.1:n.*3705+174T>C
ENST00000647158.1:c.*2406+174T>C	ENSP00000495744.1:n.*2406+174T>C
ENST00000302539.8:c.4122+174T>C	ENSP00000303960.4:n.4122+174T>C
ENST00000389817.7:c.4119+174T>C	ENSP00000374467.3:n.4119+174T>C
ENST00000528374.1:c.601+174T>C
ENST00000532220.1:n.593+174T>C
NM_000352.4:c.4119+174T>C	NP_000343.2:n.4119+174T>C
NM_001287174.1:c.4122+174T>C	NP_001274103.1:n.4122+174T>C
XM_011520331.1:c.4119+174T>C	XP_011518633.1:n.4119+174T>C
XM_011520332.1:c.4122+174T>C	XP_011518634.1:n.4122+174T>C
XM_011520333.1:c.2619+174T>C	XP_011518635.1:n.2619+174T>C
XR_930890.1:n.4185+174T>C
NM_001351295.1:c.4185+174T>C	NP_001338224.1:n.4185+174T>C
NM_001351296.1:c.4119+174T>C	NP_001338225.1:n.4119+174T>C
NM_001351297.1:c.4116+174T>C	NP_001338226.1:n.4116+174T>C
NR_147094.1:n.4414+174T>C
XM_017018197.2:c.4188+174T>C	XP_016873686.1:n.4188+174T>C
XM_017018199.1:c.4185+174T>C	XP_016873688.1:n.4185+174T>C
XM_017018201.2:c.4188+174T>C	XP_016873690.1:n.4188+174T>C
XM_017018202.1:c.2685+174T>C	XP_016873691.1:n.2685+174T>C
XM_017018204.1:c.2076+174T>C	XP_016873693.1:n.2076+174T>C
XM_024448668.1:c.2487+174T>C	XP_024304436.1:n.2487+174T>C
XR_001747945.2:n.4260+174T>C
XR_001747946.2:n.4191+174T>C
XR_002957189.1:n.5030T>C
NM_000352.6:c.4119+174T>C MANE Select	NP_000343.2:n.4119+174T>C
NM_001287174.2:c.4122+174T>C	NP_001274103.1:n.4122+174T>C
NM_001351295.2:c.4185+174T>C	NP_001338224.1:n.4185+174T>C
NM_001351296.2:c.4119+174T>C	NP_001338225.1:n.4119+174T>C
NM_001351297.2:c.4116+174T>C	NP_001338226.1:n.4116+174T>C
NR_147094.2:n.4414+174T>C
NM_001287174.3:c.4122+174T>C	NP_001274103.1:n.4122+174T>C