Canonical Allele Identifier: CA379786774

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395671-T-G
• MyVariant Identifiers: chr11:g.17417218T>G (hg19) ; chr11:g.17395671T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395671T>G , CM000673.2:g.17395671T>G	GRCh38
NC_000011.9:g.17417218T>G , CM000673.1:g.17417218T>G	GRCh37
NC_000011.8:g.17373794T>G	NCBI36
NG_008867.1:g.86232A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3847A>C
ENST00000528374.2:c.837A>C
ENST00000529967.6:n.2585A>C
ENST00000532220.2:n.3479A>C
ENST00000642611.2:n.5579A>C
ENST00000644057.2:n.822A>C
ENST00000645004.2:n.1745A>C
ENST00000682051.1:n.4408A>C
ENST00000682110.1:n.4461A>C
ENST00000682140.1:c.*32A>C	ENSP00000507829.1:n.*32A>C
ENST00000682185.1:n.5551A>C
ENST00000682204.1:c.*2384A>C	ENSP00000507094.1:n.*2384A>C
ENST00000682215.1:n.4828A>C
ENST00000682288.1:c.*2677A>C	ENSP00000507506.1:n.*2677A>C
ENST00000682442.1:n.4681A>C
ENST00000682528.1:n.4538A>C
ENST00000682673.1:n.4405A>C
ENST00000682805.1:n.4866A>C
ENST00000682965.1:c.*668A>C	ENSP00000508229.1:n.*668A>C
ENST00000683093.1:n.5545A>C
ENST00000683136.1:c.4129A>C	ENSP00000507768.1:p.Thr1377Pro
ENST00000683153.1:n.4503A>C
ENST00000683365.1:n.4563A>C
ENST00000683377.1:n.4461A>C
ENST00000683456.1:c.*1383A>C	ENSP00000508318.1:n.*1383A>C
ENST00000683522.1:n.4461A>C
ENST00000683562.1:c.*2415A>C	ENSP00000508265.1:n.*2415A>C
ENST00000683693.1:n.6026A>C
ENST00000683725.1:c.4246A>C	ENSP00000507496.1:p.Thr1416Pro
ENST00000684010.1:n.4456A>C
ENST00000684157.1:n.5446A>C
ENST00000684253.1:n.4364A>C
ENST00000684288.1:c.*2418A>C	ENSP00000507143.1:n.*2418A>C
ENST00000684313.1:n.3893A>C
ENST00000684332.1:n.4534A>C
ENST00000684371.1:n.4567A>C
ENST00000684404.1:n.5489A>C
ENST00000684442.1:n.4685A>C
ENST00000684555.1:c.*2458A>C	ENSP00000507705.1:n.*2458A>C
ENST00000684571.1:c.4087A>C	ENSP00000506935.1:p.Thr1363Pro
ENST00000684593.1:c.*3951A>C	ENSP00000507005.1:n.*3951A>C
ENST00000684711.1:c.*2642A>C	ENSP00000506841.1:n.*2642A>C
ENST00000302539.9:c.4249A>C	ENSP00000303960.4:p.Thr1417Pro
ENST00000389817.8:c.4246A>C MANE Select	ENSP00000374467.4:p.Thr1416Pro
ENST00000642271.1:c.4243A>C	ENSP00000493749.1:p.Thr1415Pro
ENST00000642579.1:c.2300A>C
ENST00000642611.1:n.5464A>C
ENST00000642902.1:c.4028A>C
ENST00000643260.1:c.4246A>C	ENSP00000494450.1:p.Thr1416Pro
ENST00000643562.1:c.*2368A>C	ENSP00000496124.1:n.*2368A>C
ENST00000643925.1:c.2886A>C
ENST00000644057.1:n.323A>C
ENST00000644484.1:c.*3632A>C	ENSP00000493558.1:n.*3632A>C
ENST00000644675.1:c.*2418A>C	ENSP00000494567.1:n.*2418A>C
ENST00000644757.1:c.*3202+593A>C	ENSP00000495085.1:n.*3202+593A>C
ENST00000644772.1:c.4312A>C	ENSP00000494321.1:p.Thr1438Pro
ENST00000645004.1:n.1939A>C
ENST00000645076.1:c.3445A>C
ENST00000645417.1:c.1434A>C
ENST00000645744.1:c.*3964-33A>C	ENSP00000494564.1:n.*3964-33A>C
ENST00000645760.1:c.4667A>C
ENST00000645884.1:c.*1529A>C	ENSP00000495516.1:n.*1529A>C
ENST00000646003.1:c.*2301-33A>C	ENSP00000495259.1:n.*2301-33A>C
ENST00000646207.1:c.*3083A>C	ENSP00000495025.1:n.*3083A>C
ENST00000646276.1:c.*3650A>C	ENSP00000496070.1:n.*3650A>C
ENST00000646592.1:c.3552A>C
ENST00000646902.1:c.4213A>C	ENSP00000494101.1:p.Thr1405Pro
ENST00000646993.1:c.*2788A>C	ENSP00000493720.1:n.*2788A>C
ENST00000647013.1:c.4252A>C	ENSP00000496741.1:n.4252A>C
ENST00000647015.1:c.3997A>C	ENSP00000495389.1:p.Thr1333Pro
ENST00000647086.1:c.*3832A>C	ENSP00000493677.1:n.*3832A>C
ENST00000647158.1:c.*2533A>C	ENSP00000495744.1:n.*2533A>C
ENST00000302539.8:c.4249A>C	ENSP00000303960.4:p.Thr1417Pro
ENST00000389817.7:c.4246A>C	ENSP00000374467.3:p.Thr1416Pro
ENST00000525022.1:n.245A>C
ENST00000526037.5:n.110A>C
ENST00000526168.5:c.67-33A>C
ENST00000531642.5:c.82A>C
NM_000352.4:c.4246A>C	NP_000343.2:p.Thr1416Pro
NM_001287174.1:c.4249A>C	NP_001274103.1:p.Thr1417Pro
XM_011520331.1:c.4246A>C	XP_011518633.1:p.Thr1416Pro
XM_011520332.1:c.4249A>C	XP_011518634.1:p.Thr1417Pro
XM_011520333.1:c.2746A>C	XP_011518635.1:p.Thr916Pro
XR_930890.1:n.4312A>C
NM_001351295.1:c.4312A>C	NP_001338224.1:p.Thr1438Pro
NM_001351296.1:c.4246A>C	NP_001338225.1:p.Thr1416Pro
NM_001351297.1:c.4243A>C	NP_001338226.1:p.Thr1415Pro
NR_147094.1:n.4541A>C
XM_017018197.2:c.4315A>C	XP_016873686.1:p.Thr1439Pro
XM_017018199.1:c.4312A>C	XP_016873688.1:p.Thr1438Pro
XM_017018201.2:c.4315A>C	XP_016873690.1:p.Thr1439Pro
XM_017018202.1:c.2812A>C	XP_016873691.1:p.Thr938Pro
XM_017018204.1:c.2203A>C	XP_016873693.1:p.Thr735Pro
XM_024448668.1:c.2614A>C	XP_024304436.1:p.Thr872Pro
XR_001747945.2:n.4387A>C
XR_001747946.2:n.4318A>C
XR_002957189.1:n.6101A>C
NM_000352.6:c.4246A>C MANE Select	NP_000343.2:p.Thr1416Pro
NM_001287174.2:c.4249A>C	NP_001274103.1:p.Thr1417Pro
NM_001351295.2:c.4312A>C	NP_001338224.1:p.Thr1438Pro
NM_001351296.2:c.4246A>C	NP_001338225.1:p.Thr1416Pro
NM_001351297.2:c.4243A>C	NP_001338226.1:p.Thr1415Pro
NR_147094.2:n.4541A>C
NM_001287174.3:c.4249A>C	NP_001274103.1:p.Thr1417Pro