Canonical Allele Identifier: CA379786877

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395680-G-T
• MyVariant Identifiers: chr11:g.17417227G>T (hg19) ; chr11:g.17395680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395680G>T , CM000673.2:g.17395680G>T	GRCh38
NC_000011.9:g.17417227G>T , CM000673.1:g.17417227G>T	GRCh37
NC_000011.8:g.17373803G>T	NCBI36
NG_008867.1:g.86223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3838C>A
ENST00000528374.2:c.828C>A
ENST00000529967.6:n.2576C>A
ENST00000532220.2:n.3470C>A
ENST00000642611.2:n.5570C>A
ENST00000644057.2:n.813C>A
ENST00000645004.2:n.1736C>A
ENST00000682051.1:n.4399C>A
ENST00000682110.1:n.4452C>A
ENST00000682140.1:c.*23C>A	ENSP00000507829.1:n.*23C>A
ENST00000682185.1:n.5542C>A
ENST00000682204.1:c.*2375C>A	ENSP00000507094.1:n.*2375C>A
ENST00000682215.1:n.4819C>A
ENST00000682288.1:c.*2668C>A	ENSP00000507506.1:n.*2668C>A
ENST00000682442.1:n.4672C>A
ENST00000682528.1:n.4529C>A
ENST00000682673.1:n.4396C>A
ENST00000682805.1:n.4857C>A
ENST00000682965.1:c.*659C>A	ENSP00000508229.1:n.*659C>A
ENST00000683093.1:n.5536C>A
ENST00000683136.1:c.4120C>A	ENSP00000507768.1:p.Pro1374Thr
ENST00000683153.1:n.4494C>A
ENST00000683365.1:n.4554C>A
ENST00000683377.1:n.4452C>A
ENST00000683456.1:c.*1374C>A	ENSP00000508318.1:n.*1374C>A
ENST00000683522.1:n.4452C>A
ENST00000683562.1:c.*2406C>A	ENSP00000508265.1:n.*2406C>A
ENST00000683693.1:n.6017C>A
ENST00000683725.1:c.4237C>A	ENSP00000507496.1:p.Pro1413Thr
ENST00000684010.1:n.4447C>A
ENST00000684157.1:n.5437C>A
ENST00000684253.1:n.4355C>A
ENST00000684288.1:c.*2409C>A	ENSP00000507143.1:n.*2409C>A
ENST00000684313.1:n.3884C>A
ENST00000684332.1:n.4525C>A
ENST00000684371.1:n.4558C>A
ENST00000684404.1:n.5480C>A
ENST00000684442.1:n.4676C>A
ENST00000684555.1:c.*2449C>A	ENSP00000507705.1:n.*2449C>A
ENST00000684571.1:c.4078C>A	ENSP00000506935.1:p.Pro1360Thr
ENST00000684593.1:c.*3942C>A	ENSP00000507005.1:n.*3942C>A
ENST00000684711.1:c.*2633C>A	ENSP00000506841.1:n.*2633C>A
ENST00000302539.9:c.4240C>A	ENSP00000303960.4:p.Pro1414Thr
ENST00000389817.8:c.4237C>A MANE Select	ENSP00000374467.4:p.Pro1413Thr
ENST00000642271.1:c.4234C>A	ENSP00000493749.1:p.Pro1412Thr
ENST00000642579.1:c.2291C>A
ENST00000642611.1:n.5455C>A
ENST00000642902.1:c.4019C>A
ENST00000643260.1:c.4237C>A	ENSP00000494450.1:p.Pro1413Thr
ENST00000643562.1:c.*2359C>A	ENSP00000496124.1:n.*2359C>A
ENST00000643925.1:c.2877C>A
ENST00000644057.1:n.314C>A
ENST00000644484.1:c.*3623C>A	ENSP00000493558.1:n.*3623C>A
ENST00000644675.1:c.*2409C>A	ENSP00000494567.1:n.*2409C>A
ENST00000644757.1:c.*3202+584C>A	ENSP00000495085.1:n.*3202+584C>A
ENST00000644772.1:c.4303C>A	ENSP00000494321.1:p.Pro1435Thr
ENST00000645004.1:n.1930C>A
ENST00000645076.1:c.3436C>A
ENST00000645417.1:c.1425C>A
ENST00000645744.1:c.*3964-42C>A	ENSP00000494564.1:n.*3964-42C>A
ENST00000645760.1:c.4658C>A
ENST00000645884.1:c.*1520C>A	ENSP00000495516.1:n.*1520C>A
ENST00000646003.1:c.*2301-42C>A	ENSP00000495259.1:n.*2301-42C>A
ENST00000646207.1:c.*3074C>A	ENSP00000495025.1:n.*3074C>A
ENST00000646276.1:c.*3641C>A	ENSP00000496070.1:n.*3641C>A
ENST00000646592.1:c.3543C>A
ENST00000646902.1:c.4204C>A	ENSP00000494101.1:p.Pro1402Thr
ENST00000646993.1:c.*2779C>A	ENSP00000493720.1:n.*2779C>A
ENST00000647013.1:c.4243C>A	ENSP00000496741.1:n.4243C>A
ENST00000647015.1:c.3988C>A	ENSP00000495389.1:p.Pro1330Thr
ENST00000647086.1:c.*3823C>A	ENSP00000493677.1:n.*3823C>A
ENST00000647158.1:c.*2524C>A	ENSP00000495744.1:n.*2524C>A
ENST00000302539.8:c.4240C>A	ENSP00000303960.4:p.Pro1414Thr
ENST00000389817.7:c.4237C>A	ENSP00000374467.3:p.Pro1413Thr
ENST00000525022.1:n.236C>A
ENST00000526037.5:n.101C>A
ENST00000526168.5:c.67-42C>A
ENST00000531642.5:c.73C>A
NM_000352.4:c.4237C>A	NP_000343.2:p.Pro1413Thr
NM_001287174.1:c.4240C>A	NP_001274103.1:p.Pro1414Thr
XM_011520331.1:c.4237C>A	XP_011518633.1:p.Pro1413Thr
XM_011520332.1:c.4240C>A	XP_011518634.1:p.Pro1414Thr
XM_011520333.1:c.2737C>A	XP_011518635.1:p.Pro913Thr
XR_930890.1:n.4303C>A
NM_001351295.1:c.4303C>A	NP_001338224.1:p.Pro1435Thr
NM_001351296.1:c.4237C>A	NP_001338225.1:p.Pro1413Thr
NM_001351297.1:c.4234C>A	NP_001338226.1:p.Pro1412Thr
NR_147094.1:n.4532C>A
XM_017018197.2:c.4306C>A	XP_016873686.1:p.Pro1436Thr
XM_017018199.1:c.4303C>A	XP_016873688.1:p.Pro1435Thr
XM_017018201.2:c.4306C>A	XP_016873690.1:p.Pro1436Thr
XM_017018202.1:c.2803C>A	XP_016873691.1:p.Pro935Thr
XM_017018204.1:c.2194C>A	XP_016873693.1:p.Pro732Thr
XM_024448668.1:c.2605C>A	XP_024304436.1:p.Pro869Thr
XR_001747945.2:n.4378C>A
XR_001747946.2:n.4309C>A
XR_002957189.1:n.6092C>A
NM_000352.6:c.4237C>A MANE Select	NP_000343.2:p.Pro1413Thr
NM_001287174.2:c.4240C>A	NP_001274103.1:p.Pro1414Thr
NM_001351295.2:c.4303C>A	NP_001338224.1:p.Pro1435Thr
NM_001351296.2:c.4237C>A	NP_001338225.1:p.Pro1413Thr
NM_001351297.2:c.4234C>A	NP_001338226.1:p.Pro1412Thr
NR_147094.2:n.4532C>A
NM_001287174.3:c.4240C>A	NP_001274103.1:p.Pro1414Thr