Canonical Allele Identifier: CA379788014

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417428G>C (hg19) ; chr11:g.17395881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395881G>C , CM000673.2:g.17395881G>C	GRCh38
NC_000011.9:g.17417428G>C , CM000673.1:g.17417428G>C	GRCh37
NC_000011.8:g.17374004G>C	NCBI36
NG_008867.1:g.86022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3770C>G
ENST00000528374.2:c.760C>G
ENST00000529967.6:n.2508C>G
ENST00000532220.2:n.3402C>G
ENST00000642611.2:n.5369C>G
ENST00000644057.2:n.612C>G
ENST00000645004.2:n.1668C>G
ENST00000682051.1:n.4331C>G
ENST00000682110.1:n.4384C>G
ENST00000682140.1:c.4035C>G	ENSP00000507829.1:p.Cys1345Trp
ENST00000682185.1:n.5474C>G
ENST00000682204.1:c.*2307C>G	ENSP00000507094.1:n.*2307C>G
ENST00000682215.1:n.4751C>G
ENST00000682288.1:c.*2600C>G	ENSP00000507506.1:n.*2600C>G
ENST00000682442.1:n.4604C>G
ENST00000682528.1:n.4461C>G
ENST00000682673.1:n.4328C>G
ENST00000682805.1:n.4789C>G
ENST00000682965.1:c.*591C>G	ENSP00000508229.1:n.*591C>G
ENST00000683093.1:n.5468C>G
ENST00000683136.1:c.4052C>G	ENSP00000507768.1:p.Ala1351Gly
ENST00000683153.1:n.4426C>G
ENST00000683365.1:n.4486C>G
ENST00000683377.1:n.4384C>G
ENST00000683456.1:c.*1306C>G	ENSP00000508318.1:n.*1306C>G
ENST00000683522.1:n.4384C>G
ENST00000683562.1:c.*2338C>G	ENSP00000508265.1:n.*2338C>G
ENST00000683693.1:n.5816C>G
ENST00000683725.1:c.4169C>G	ENSP00000507496.1:p.Ala1390Gly
ENST00000684010.1:n.4379C>G
ENST00000684157.1:n.5369C>G
ENST00000684253.1:n.4287C>G
ENST00000684288.1:c.*2341C>G	ENSP00000507143.1:n.*2341C>G
ENST00000684313.1:n.3816C>G
ENST00000684332.1:n.4457C>G
ENST00000684371.1:n.4490C>G
ENST00000684404.1:n.5412C>G
ENST00000684442.1:n.4608C>G
ENST00000684555.1:c.*2381C>G	ENSP00000507705.1:n.*2381C>G
ENST00000684571.1:c.4010C>G	ENSP00000506935.1:p.Ala1337Gly
ENST00000684593.1:c.*3874C>G	ENSP00000507005.1:n.*3874C>G
ENST00000684711.1:c.*2565C>G	ENSP00000506841.1:n.*2565C>G
ENST00000302539.9:c.4172C>G	ENSP00000303960.4:p.Ala1391Gly
ENST00000389817.8:c.4169C>G MANE Select	ENSP00000374467.4:p.Ala1390Gly
ENST00000642271.1:c.4166C>G	ENSP00000493749.1:p.Ala1389Gly
ENST00000642579.1:c.2223C>G
ENST00000642611.1:n.5254C>G
ENST00000642902.1:c.3951C>G
ENST00000643260.1:c.4169C>G	ENSP00000494450.1:p.Ala1390Gly
ENST00000643562.1:c.*2291C>G	ENSP00000496124.1:n.*2291C>G
ENST00000643925.1:c.2809C>G
ENST00000644057.1:n.246C>G
ENST00000644484.1:c.*3555C>G	ENSP00000493558.1:n.*3555C>G
ENST00000644675.1:c.*2341C>G	ENSP00000494567.1:n.*2341C>G
ENST00000644757.1:c.*3202+383C>G	ENSP00000495085.1:n.*3202+383C>G
ENST00000644772.1:c.4235C>G	ENSP00000494321.1:p.Ala1412Gly
ENST00000645004.1:n.1862C>G
ENST00000645076.1:c.3368C>G
ENST00000645417.1:c.1357C>G
ENST00000645744.1:c.*3934C>G	ENSP00000494564.1:n.*3934C>G
ENST00000645760.1:c.4590C>G
ENST00000645884.1:c.*1452C>G	ENSP00000495516.1:n.*1452C>G
ENST00000646003.1:c.*2271C>G	ENSP00000495259.1:n.*2271C>G
ENST00000646207.1:c.*3006C>G	ENSP00000495025.1:n.*3006C>G
ENST00000646276.1:c.*3573C>G	ENSP00000496070.1:n.*3573C>G
ENST00000646592.1:c.3475C>G
ENST00000646902.1:c.4136C>G	ENSP00000494101.1:p.Ala1379Gly
ENST00000646993.1:c.*2711C>G	ENSP00000493720.1:n.*2711C>G
ENST00000647013.1:c.4175C>G	ENSP00000496741.1:n.4175C>G
ENST00000647015.1:c.3920C>G	ENSP00000495389.1:p.Ala1307Gly
ENST00000647086.1:c.*3755C>G	ENSP00000493677.1:n.*3755C>G
ENST00000647158.1:c.*2456C>G	ENSP00000495744.1:n.*2456C>G
ENST00000302539.8:c.4172C>G	ENSP00000303960.4:p.Ala1391Gly
ENST00000389817.7:c.4169C>G	ENSP00000374467.3:p.Ala1390Gly
ENST00000525022.1:n.35C>G
ENST00000526168.5:c.37C>G
ENST00000531642.5:c.5C>G
NM_000352.4:c.4169C>G	NP_000343.2:p.Ala1390Gly
NM_001287174.1:c.4172C>G	NP_001274103.1:p.Ala1391Gly
XM_011520331.1:c.4169C>G	XP_011518633.1:p.Ala1390Gly
XM_011520332.1:c.4172C>G	XP_011518634.1:p.Ala1391Gly
XM_011520333.1:c.2669C>G	XP_011518635.1:p.Ala890Gly
XR_930890.1:n.4235C>G
NM_001351295.1:c.4235C>G	NP_001338224.1:p.Ala1412Gly
NM_001351296.1:c.4169C>G	NP_001338225.1:p.Ala1390Gly
NM_001351297.1:c.4166C>G	NP_001338226.1:p.Ala1389Gly
NR_147094.1:n.4464C>G
XM_017018197.2:c.4238C>G	XP_016873686.1:p.Ala1413Gly
XM_017018199.1:c.4235C>G	XP_016873688.1:p.Ala1412Gly
XM_017018201.2:c.4238C>G	XP_016873690.1:p.Ala1413Gly
XM_017018202.1:c.2735C>G	XP_016873691.1:p.Ala912Gly
XM_017018204.1:c.2126C>G	XP_016873693.1:p.Ala709Gly
XM_024448668.1:c.2537C>G	XP_024304436.1:p.Ala846Gly
XR_001747945.2:n.4310C>G
XR_001747946.2:n.4241C>G
XR_002957189.1:n.5891C>G
NM_000352.6:c.4169C>G MANE Select	NP_000343.2:p.Ala1390Gly
NM_001287174.2:c.4172C>G	NP_001274103.1:p.Ala1391Gly
NM_001351295.2:c.4235C>G	NP_001338224.1:p.Ala1412Gly
NM_001351296.2:c.4169C>G	NP_001338225.1:p.Ala1390Gly
NM_001351297.2:c.4166C>G	NP_001338226.1:p.Ala1389Gly
NR_147094.2:n.4464C>G
NM_001287174.3:c.4172C>G	NP_001274103.1:p.Ala1391Gly