Canonical Allele Identifier: CA379786610

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395652-G-T
• MyVariant Identifiers: chr11:g.17417199G>T (hg19) ; chr11:g.17395652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395652G>T , CM000673.2:g.17395652G>T	GRCh38
NC_000011.9:g.17417199G>T , CM000673.1:g.17417199G>T	GRCh37
NC_000011.8:g.17373775G>T	NCBI36
NG_008867.1:g.86251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3866C>A
ENST00000528374.2:c.856C>A
ENST00000529967.6:n.2604C>A
ENST00000532220.2:n.3498C>A
ENST00000642611.2:n.5598C>A
ENST00000644057.2:n.841C>A
ENST00000645004.2:n.1764C>A
ENST00000682051.1:n.4427C>A
ENST00000682110.1:n.4480C>A
ENST00000682140.1:c.*51C>A	ENSP00000507829.1:n.*51C>A
ENST00000682185.1:n.5570C>A
ENST00000682204.1:c.*2403C>A	ENSP00000507094.1:n.*2403C>A
ENST00000682215.1:n.4847C>A
ENST00000682288.1:c.*2696C>A	ENSP00000507506.1:n.*2696C>A
ENST00000682442.1:n.4700C>A
ENST00000682528.1:n.4557C>A
ENST00000682673.1:n.4424C>A
ENST00000682805.1:n.4885C>A
ENST00000682965.1:c.*687C>A	ENSP00000508229.1:n.*687C>A
ENST00000683093.1:n.5564C>A
ENST00000683136.1:c.4148C>A	ENSP00000507768.1:p.Ser1383Tyr
ENST00000683153.1:n.4522C>A
ENST00000683365.1:n.4582C>A
ENST00000683377.1:n.4480C>A
ENST00000683456.1:c.*1402C>A	ENSP00000508318.1:n.*1402C>A
ENST00000683522.1:n.4480C>A
ENST00000683562.1:c.*2434C>A	ENSP00000508265.1:n.*2434C>A
ENST00000683693.1:n.6045C>A
ENST00000683725.1:c.4265C>A	ENSP00000507496.1:p.Ser1422Tyr
ENST00000684010.1:n.4475C>A
ENST00000684157.1:n.5465C>A
ENST00000684253.1:n.4383C>A
ENST00000684288.1:c.*2437C>A	ENSP00000507143.1:n.*2437C>A
ENST00000684313.1:n.3912C>A
ENST00000684332.1:n.4553C>A
ENST00000684371.1:n.4586C>A
ENST00000684404.1:n.5508C>A
ENST00000684442.1:n.4704C>A
ENST00000684555.1:c.*2477C>A	ENSP00000507705.1:n.*2477C>A
ENST00000684571.1:c.4106C>A	ENSP00000506935.1:p.Ser1369Tyr
ENST00000684593.1:c.*3970C>A	ENSP00000507005.1:n.*3970C>A
ENST00000684711.1:c.*2661C>A	ENSP00000506841.1:n.*2661C>A
ENST00000302539.9:c.4268C>A	ENSP00000303960.4:p.Ser1423Tyr
ENST00000389817.8:c.4265C>A MANE Select	ENSP00000374467.4:p.Ser1422Tyr
ENST00000642271.1:c.4262C>A	ENSP00000493749.1:p.Ser1421Tyr
ENST00000642579.1:c.2319C>A
ENST00000642611.1:n.5483C>A
ENST00000642902.1:c.4047C>A
ENST00000643260.1:c.4265C>A	ENSP00000494450.1:p.Ser1422Tyr
ENST00000643562.1:c.*2387C>A	ENSP00000496124.1:n.*2387C>A
ENST00000643925.1:c.2905C>A
ENST00000644057.1:n.342C>A
ENST00000644484.1:c.*3651C>A	ENSP00000493558.1:n.*3651C>A
ENST00000644675.1:c.*2437C>A	ENSP00000494567.1:n.*2437C>A
ENST00000644757.1:c.*3202+612C>A	ENSP00000495085.1:n.*3202+612C>A
ENST00000644772.1:c.4331C>A	ENSP00000494321.1:p.Ser1444Tyr
ENST00000645004.1:n.1958C>A
ENST00000645076.1:c.3464C>A
ENST00000645417.1:c.1453C>A
ENST00000645744.1:c.*3964-14C>A	ENSP00000494564.1:n.*3964-14C>A
ENST00000645760.1:c.4686C>A
ENST00000645884.1:c.*1548C>A	ENSP00000495516.1:n.*1548C>A
ENST00000646003.1:c.*2301-14C>A	ENSP00000495259.1:n.*2301-14C>A
ENST00000646207.1:c.*3102C>A	ENSP00000495025.1:n.*3102C>A
ENST00000646276.1:c.*3669C>A	ENSP00000496070.1:n.*3669C>A
ENST00000646592.1:c.3571C>A
ENST00000646902.1:c.4232C>A	ENSP00000494101.1:p.Ser1411Tyr
ENST00000646993.1:c.*2807C>A	ENSP00000493720.1:n.*2807C>A
ENST00000647013.1:c.4271C>A	ENSP00000496741.1:n.4271C>A
ENST00000647015.1:c.4016C>A	ENSP00000495389.1:p.Ser1339Tyr
ENST00000647086.1:c.*3851C>A	ENSP00000493677.1:n.*3851C>A
ENST00000647158.1:c.*2552C>A	ENSP00000495744.1:n.*2552C>A
ENST00000302539.8:c.4268C>A	ENSP00000303960.4:p.Ser1423Tyr
ENST00000389817.7:c.4265C>A	ENSP00000374467.3:p.Ser1422Tyr
ENST00000525022.1:n.264C>A
ENST00000526037.5:n.129C>A
ENST00000526168.5:c.67-14C>A
ENST00000531642.5:c.101C>A
NM_000352.4:c.4265C>A	NP_000343.2:p.Ser1422Tyr
NM_001287174.1:c.4268C>A	NP_001274103.1:p.Ser1423Tyr
XM_011520331.1:c.4265C>A	XP_011518633.1:p.Ser1422Tyr
XM_011520332.1:c.4268C>A	XP_011518634.1:p.Ser1423Tyr
XM_011520333.1:c.2765C>A	XP_011518635.1:p.Ser922Tyr
XR_930890.1:n.4331C>A
NM_001351295.1:c.4331C>A	NP_001338224.1:p.Ser1444Tyr
NM_001351296.1:c.4265C>A	NP_001338225.1:p.Ser1422Tyr
NM_001351297.1:c.4262C>A	NP_001338226.1:p.Ser1421Tyr
NR_147094.1:n.4560C>A
XM_017018197.2:c.4334C>A	XP_016873686.1:p.Ser1445Tyr
XM_017018199.1:c.4331C>A	XP_016873688.1:p.Ser1444Tyr
XM_017018201.2:c.4334C>A	XP_016873690.1:p.Ser1445Tyr
XM_017018202.1:c.2831C>A	XP_016873691.1:p.Ser944Tyr
XM_017018204.1:c.2222C>A	XP_016873693.1:p.Ser741Tyr
XM_024448668.1:c.2633C>A	XP_024304436.1:p.Ser878Tyr
XR_001747945.2:n.4406C>A
XR_001747946.2:n.4337C>A
XR_002957189.1:n.6120C>A
NM_000352.6:c.4265C>A MANE Select	NP_000343.2:p.Ser1422Tyr
NM_001287174.2:c.4268C>A	NP_001274103.1:p.Ser1423Tyr
NM_001351295.2:c.4331C>A	NP_001338224.1:p.Ser1444Tyr
NM_001351296.2:c.4265C>A	NP_001338225.1:p.Ser1422Tyr
NM_001351297.2:c.4262C>A	NP_001338226.1:p.Ser1421Tyr
NR_147094.2:n.4560C>A
NM_001287174.3:c.4268C>A	NP_001274103.1:p.Ser1423Tyr