Canonical Allele Identifier: CA379782757

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2137006
• ClinVar RCV Id: RCV003227081 ; RCV003062338
• MyVariant Identifiers: chr11:g.17415826A>G (hg19) ; chr11:g.17394279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394279A>G , CM000673.2:g.17394279A>G	GRCh38
NC_000011.9:g.17415826A>G , CM000673.1:g.17415826A>G	GRCh37
NC_000011.8:g.17372402A>G	NCBI36
NG_008867.1:g.87624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4133T>C
ENST00000526037.6:n.467T>C
ENST00000528374.2:c.1123T>C
ENST00000529967.6:n.2871T>C
ENST00000532220.2:n.3765T>C
ENST00000642611.2:n.5865T>C
ENST00000644057.2:n.1108T>C
ENST00000645004.2:n.2031T>C
ENST00000682051.1:n.4694T>C
ENST00000682110.1:n.4747T>C
ENST00000682140.1:c.*318T>C	ENSP00000507829.1:n.*318T>C
ENST00000682185.1:n.5837T>C
ENST00000682204.1:c.*2670T>C	ENSP00000507094.1:n.*2670T>C
ENST00000682215.1:n.5114T>C
ENST00000682288.1:c.*2963T>C	ENSP00000507506.1:n.*2963T>C
ENST00000682442.1:n.4967T>C
ENST00000682528.1:n.4824T>C
ENST00000682673.1:n.4691T>C
ENST00000682805.1:n.5152T>C
ENST00000682965.1:c.*954T>C	ENSP00000508229.1:n.*954T>C
ENST00000683093.1:n.5727T>C
ENST00000683136.1:c.4415T>C	ENSP00000507768.1:p.Ile1472Thr
ENST00000683153.1:n.4789T>C
ENST00000683365.1:n.4849T>C
ENST00000683377.1:n.4643T>C
ENST00000683456.1:c.*1669T>C	ENSP00000508318.1:n.*1669T>C
ENST00000683522.1:n.4829T>C
ENST00000683562.1:c.*2597T>C	ENSP00000508265.1:n.*2597T>C
ENST00000683693.1:n.6208T>C
ENST00000683725.1:c.4428T>C	ENSP00000507496.1:p.His1476=
ENST00000684010.1:n.4742T>C
ENST00000684014.1:n.719T>C
ENST00000684157.1:n.5732T>C
ENST00000684253.1:n.4650T>C
ENST00000684288.1:c.*2704T>C	ENSP00000507143.1:n.*2704T>C
ENST00000684313.1:n.4179T>C
ENST00000684332.1:n.4820T>C
ENST00000684371.1:n.4853T>C
ENST00000684404.1:n.5775T>C
ENST00000684442.1:n.4971T>C
ENST00000684555.1:c.*2744T>C	ENSP00000507705.1:n.*2744T>C
ENST00000684571.1:c.4373T>C	ENSP00000506935.1:p.Ile1458Thr
ENST00000684593.1:c.*4237T>C	ENSP00000507005.1:n.*4237T>C
ENST00000684711.1:c.*2928T>C	ENSP00000506841.1:n.*2928T>C
ENST00000302539.9:c.4535T>C	ENSP00000303960.4:p.Ile1512Thr
ENST00000389817.8:c.4532T>C MANE Select	ENSP00000374467.4:p.Ile1511Thr
ENST00000642271.1:c.4529T>C	ENSP00000493749.1:p.Ile1510Thr
ENST00000642579.1:c.2586T>C
ENST00000642611.1:n.5750T>C
ENST00000642902.1:c.4314T>C
ENST00000643260.1:c.4532T>C	ENSP00000494450.1:p.Ile1511Thr
ENST00000643562.1:c.*2654T>C	ENSP00000496124.1:n.*2654T>C
ENST00000643925.1:c.3172T>C
ENST00000644057.1:n.691T>C
ENST00000644484.1:c.*3918T>C	ENSP00000493558.1:n.*3918T>C
ENST00000644675.1:c.*2704T>C	ENSP00000494567.1:n.*2704T>C
ENST00000644757.1:c.*3203-1299T>C	ENSP00000495085.1:n.*3203-1299T>C
ENST00000644772.1:c.4598T>C	ENSP00000494321.1:p.Ile1533Thr
ENST00000645004.1:n.2225T>C
ENST00000645076.1:c.3627T>C
ENST00000645417.1:c.1720T>C
ENST00000645744.1:c.*4217T>C	ENSP00000494564.1:n.*4217T>C
ENST00000645760.1:c.4953T>C
ENST00000645884.1:c.*1815T>C	ENSP00000495516.1:n.*1815T>C
ENST00000646003.1:c.*2554T>C	ENSP00000495259.1:n.*2554T>C
ENST00000646207.1:c.*3369T>C	ENSP00000495025.1:n.*3369T>C
ENST00000646276.1:c.*3936T>C	ENSP00000496070.1:n.*3936T>C
ENST00000646592.1:c.3838T>C
ENST00000646902.1:c.4499T>C	ENSP00000494101.1:p.Ile1500Thr
ENST00000646993.1:c.*2970T>C	ENSP00000493720.1:n.*2970T>C
ENST00000647015.1:c.4283T>C	ENSP00000495389.1:p.Ile1428Thr
ENST00000647086.1:c.*4118T>C	ENSP00000493677.1:n.*4118T>C
ENST00000647158.1:c.*2819T>C	ENSP00000495744.1:n.*2819T>C
ENST00000302539.8:c.4535T>C	ENSP00000303960.4:p.Ile1512Thr
ENST00000389817.7:c.4532T>C	ENSP00000374467.3:p.Ile1511Thr
ENST00000525022.1:n.427T>C
ENST00000526037.5:n.292T>C
ENST00000526168.5:c.320T>C
ENST00000531642.5:c.563T>C
NM_000352.4:c.4532T>C	NP_000343.2:p.Ile1511Thr
NM_001287174.1:c.4535T>C	NP_001274103.1:p.Ile1512Thr
XM_011520331.1:c.4532T>C	XP_011518633.1:p.Ile1511Thr
XM_011520332.1:c.4431T>C	XP_011518634.1:p.His1477=
XM_011520333.1:c.3032T>C	XP_011518635.1:p.Ile1011Thr
XR_930890.1:n.4494T>C
NM_001351295.1:c.4598T>C	NP_001338224.1:p.Ile1533Thr
NM_001351296.1:c.4532T>C	NP_001338225.1:p.Ile1511Thr
NM_001351297.1:c.4529T>C	NP_001338226.1:p.Ile1510Thr
NR_147094.1:n.4827T>C
XM_017018197.2:c.4601T>C	XP_016873686.1:p.Ile1534Thr
XM_017018199.1:c.4598T>C	XP_016873688.1:p.Ile1533Thr
XM_017018201.2:c.4497T>C	XP_016873690.1:p.His1499=
XM_017018202.1:c.3098T>C	XP_016873691.1:p.Ile1033Thr
XM_017018204.1:c.2489T>C	XP_016873693.1:p.Ile830Thr
XM_024448668.1:c.2900T>C	XP_024304436.1:p.Ile967Thr
XR_001747945.2:n.4569T>C
XR_001747946.2:n.4500T>C
XR_002957189.1:n.6283T>C
NM_000352.6:c.4532T>C MANE Select	NP_000343.2:p.Ile1511Thr
NM_001287174.2:c.4535T>C	NP_001274103.1:p.Ile1512Thr
NM_001351295.2:c.4598T>C	NP_001338224.1:p.Ile1533Thr
NM_001351296.2:c.4532T>C	NP_001338225.1:p.Ile1511Thr
NM_001351297.2:c.4529T>C	NP_001338226.1:p.Ile1510Thr
NR_147094.2:n.4827T>C
NM_001287174.3:c.4535T>C	NP_001274103.1:p.Ile1512Thr