Canonical Allele Identifier: CA379782812

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415835G>C (hg19) ; chr11:g.17394288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394288G>C , CM000673.2:g.17394288G>C	GRCh38
NC_000011.9:g.17415835G>C , CM000673.1:g.17415835G>C	GRCh37
NC_000011.8:g.17372411G>C	NCBI36
NG_008867.1:g.87615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4124C>G
ENST00000526037.6:n.458C>G
ENST00000528374.2:c.1114C>G
ENST00000529967.6:n.2862C>G
ENST00000532220.2:n.3756C>G
ENST00000642611.2:n.5856C>G
ENST00000644057.2:n.1099C>G
ENST00000645004.2:n.2022C>G
ENST00000682051.1:n.4685C>G
ENST00000682110.1:n.4738C>G
ENST00000682140.1:c.*309C>G	ENSP00000507829.1:n.*309C>G
ENST00000682185.1:n.5828C>G
ENST00000682204.1:c.*2661C>G	ENSP00000507094.1:n.*2661C>G
ENST00000682215.1:n.5105C>G
ENST00000682288.1:c.*2954C>G	ENSP00000507506.1:n.*2954C>G
ENST00000682442.1:n.4958C>G
ENST00000682528.1:n.4815C>G
ENST00000682673.1:n.4682C>G
ENST00000682805.1:n.5143C>G
ENST00000682965.1:c.*945C>G	ENSP00000508229.1:n.*945C>G
ENST00000683093.1:n.5718C>G
ENST00000683136.1:c.4406C>G	ENSP00000507768.1:p.Thr1469Arg
ENST00000683153.1:n.4780C>G
ENST00000683365.1:n.4840C>G
ENST00000683377.1:n.4634C>G
ENST00000683456.1:c.*1660C>G	ENSP00000508318.1:n.*1660C>G
ENST00000683522.1:n.4820C>G
ENST00000683562.1:c.*2588C>G	ENSP00000508265.1:n.*2588C>G
ENST00000683693.1:n.6199C>G
ENST00000683725.1:c.4419C>G	ENSP00000507496.1:p.His1473Gln
ENST00000684010.1:n.4733C>G
ENST00000684014.1:n.710C>G
ENST00000684157.1:n.5723C>G
ENST00000684253.1:n.4641C>G
ENST00000684288.1:c.*2695C>G	ENSP00000507143.1:n.*2695C>G
ENST00000684313.1:n.4170C>G
ENST00000684332.1:n.4811C>G
ENST00000684371.1:n.4844C>G
ENST00000684404.1:n.5766C>G
ENST00000684442.1:n.4962C>G
ENST00000684555.1:c.*2735C>G	ENSP00000507705.1:n.*2735C>G
ENST00000684571.1:c.4364C>G	ENSP00000506935.1:p.Thr1455Arg
ENST00000684593.1:c.*4228C>G	ENSP00000507005.1:n.*4228C>G
ENST00000684711.1:c.*2919C>G	ENSP00000506841.1:n.*2919C>G
ENST00000302539.9:c.4526C>G	ENSP00000303960.4:p.Thr1509Arg
ENST00000389817.8:c.4523C>G MANE Select	ENSP00000374467.4:p.Thr1508Arg
ENST00000642271.1:c.4520C>G	ENSP00000493749.1:p.Thr1507Arg
ENST00000642579.1:c.2577C>G
ENST00000642611.1:n.5741C>G
ENST00000642902.1:c.4305C>G
ENST00000643260.1:c.4523C>G	ENSP00000494450.1:p.Thr1508Arg
ENST00000643562.1:c.*2645C>G	ENSP00000496124.1:n.*2645C>G
ENST00000643925.1:c.3163C>G
ENST00000644057.1:n.682C>G
ENST00000644484.1:c.*3909C>G	ENSP00000493558.1:n.*3909C>G
ENST00000644675.1:c.*2695C>G	ENSP00000494567.1:n.*2695C>G
ENST00000644757.1:c.*3203-1308C>G	ENSP00000495085.1:n.*3203-1308C>G
ENST00000644772.1:c.4589C>G	ENSP00000494321.1:p.Thr1530Arg
ENST00000645004.1:n.2216C>G
ENST00000645076.1:c.3618C>G
ENST00000645417.1:c.1711C>G
ENST00000645744.1:c.*4208C>G	ENSP00000494564.1:n.*4208C>G
ENST00000645760.1:c.4944C>G
ENST00000645884.1:c.*1806C>G	ENSP00000495516.1:n.*1806C>G
ENST00000646003.1:c.*2545C>G	ENSP00000495259.1:n.*2545C>G
ENST00000646207.1:c.*3360C>G	ENSP00000495025.1:n.*3360C>G
ENST00000646276.1:c.*3927C>G	ENSP00000496070.1:n.*3927C>G
ENST00000646592.1:c.3829C>G
ENST00000646902.1:c.4490C>G	ENSP00000494101.1:p.Thr1497Arg
ENST00000646993.1:c.*2961C>G	ENSP00000493720.1:n.*2961C>G
ENST00000647013.1:c.4529C>G	ENSP00000496741.1:n.4529C>G
ENST00000647015.1:c.4274C>G	ENSP00000495389.1:p.Thr1425Arg
ENST00000647086.1:c.*4109C>G	ENSP00000493677.1:n.*4109C>G
ENST00000647158.1:c.*2810C>G	ENSP00000495744.1:n.*2810C>G
ENST00000302539.8:c.4526C>G	ENSP00000303960.4:p.Thr1509Arg
ENST00000389817.7:c.4523C>G	ENSP00000374467.3:p.Thr1508Arg
ENST00000525022.1:n.418C>G
ENST00000526037.5:n.283C>G
ENST00000526168.5:c.311C>G
ENST00000531642.5:c.554C>G
NM_000352.4:c.4523C>G	NP_000343.2:p.Thr1508Arg
NM_001287174.1:c.4526C>G	NP_001274103.1:p.Thr1509Arg
XM_011520331.1:c.4523C>G	XP_011518633.1:p.Thr1508Arg
XM_011520332.1:c.4422C>G	XP_011518634.1:p.His1474Gln
XM_011520333.1:c.3023C>G	XP_011518635.1:p.Thr1008Arg
XR_930890.1:n.4485C>G
NM_001351295.1:c.4589C>G	NP_001338224.1:p.Thr1530Arg
NM_001351296.1:c.4523C>G	NP_001338225.1:p.Thr1508Arg
NM_001351297.1:c.4520C>G	NP_001338226.1:p.Thr1507Arg
NR_147094.1:n.4818C>G
XM_017018197.2:c.4592C>G	XP_016873686.1:p.Thr1531Arg
XM_017018199.1:c.4589C>G	XP_016873688.1:p.Thr1530Arg
XM_017018201.2:c.4488C>G	XP_016873690.1:p.His1496Gln
XM_017018202.1:c.3089C>G	XP_016873691.1:p.Thr1030Arg
XM_017018204.1:c.2480C>G	XP_016873693.1:p.Thr827Arg
XM_024448668.1:c.2891C>G	XP_024304436.1:p.Thr964Arg
XR_001747945.2:n.4560C>G
XR_001747946.2:n.4491C>G
XR_002957189.1:n.6274C>G
NM_000352.6:c.4523C>G MANE Select	NP_000343.2:p.Thr1508Arg
NM_001287174.2:c.4526C>G	NP_001274103.1:p.Thr1509Arg
NM_001351295.2:c.4589C>G	NP_001338224.1:p.Thr1530Arg
NM_001351296.2:c.4523C>G	NP_001338225.1:p.Thr1508Arg
NM_001351297.2:c.4520C>G	NP_001338226.1:p.Thr1507Arg
NR_147094.2:n.4818C>G
NM_001287174.3:c.4526C>G	NP_001274103.1:p.Thr1509Arg