Canonical Allele Identifier: CA379782756

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415826A>C (hg19) ; chr11:g.17394279A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4133T>G
ENST00000526037.6:n.467T>G
ENST00000528374.2:c.1123T>G
ENST00000529967.6:n.2871T>G
ENST00000532220.2:n.3765T>G
ENST00000642611.2:n.5865T>G
ENST00000644057.2:n.1108T>G
ENST00000645004.2:n.2031T>G
ENST00000682051.1:n.4694T>G
ENST00000682110.1:n.4747T>G
ENST00000682140.1:c.*318T>G	ENSP00000507829.1:n.*318T>G
ENST00000682185.1:n.5837T>G
ENST00000682204.1:c.*2670T>G	ENSP00000507094.1:n.*2670T>G
ENST00000682215.1:n.5114T>G
ENST00000682288.1:c.*2963T>G	ENSP00000507506.1:n.*2963T>G
ENST00000682442.1:n.4967T>G
ENST00000682528.1:n.4824T>G
ENST00000682673.1:n.4691T>G
ENST00000682805.1:n.5152T>G
ENST00000682965.1:c.*954T>G	ENSP00000508229.1:n.*954T>G
ENST00000683093.1:n.5727T>G
ENST00000683136.1:c.4415T>G	ENSP00000507768.1:p.Ile1472Ser
ENST00000683153.1:n.4789T>G
ENST00000683365.1:n.4849T>G
ENST00000683377.1:n.4643T>G
ENST00000683456.1:c.*1669T>G	ENSP00000508318.1:n.*1669T>G
ENST00000683522.1:n.4829T>G
ENST00000683562.1:c.*2597T>G	ENSP00000508265.1:n.*2597T>G
ENST00000683693.1:n.6208T>G
ENST00000683725.1:c.4428T>G	ENSP00000507496.1:p.His1476Gln
ENST00000684010.1:n.4742T>G
ENST00000684014.1:n.719T>G
ENST00000684157.1:n.5732T>G
ENST00000684253.1:n.4650T>G
ENST00000684288.1:c.*2704T>G	ENSP00000507143.1:n.*2704T>G
ENST00000684313.1:n.4179T>G
ENST00000684332.1:n.4820T>G
ENST00000684371.1:n.4853T>G
ENST00000684404.1:n.5775T>G
ENST00000684442.1:n.4971T>G
ENST00000684555.1:c.*2744T>G	ENSP00000507705.1:n.*2744T>G
ENST00000684571.1:c.4373T>G	ENSP00000506935.1:p.Ile1458Ser
ENST00000684593.1:c.*4237T>G	ENSP00000507005.1:n.*4237T>G
ENST00000684711.1:c.*2928T>G	ENSP00000506841.1:n.*2928T>G
ENST00000302539.9:c.4535T>G	ENSP00000303960.4:p.Ile1512Ser
ENST00000389817.8:c.4532T>G MANE Select	ENSP00000374467.4:p.Ile1511Ser
ENST00000642271.1:c.4529T>G	ENSP00000493749.1:p.Ile1510Ser
ENST00000642579.1:c.2586T>G
ENST00000642611.1:n.5750T>G
ENST00000642902.1:c.4314T>G
ENST00000643260.1:c.4532T>G	ENSP00000494450.1:p.Ile1511Ser
ENST00000643562.1:c.*2654T>G	ENSP00000496124.1:n.*2654T>G
ENST00000643925.1:c.3172T>G
ENST00000644057.1:n.691T>G
ENST00000644484.1:c.*3918T>G	ENSP00000493558.1:n.*3918T>G
ENST00000644675.1:c.*2704T>G	ENSP00000494567.1:n.*2704T>G
ENST00000644757.1:c.*3203-1299T>G	ENSP00000495085.1:n.*3203-1299T>G
ENST00000644772.1:c.4598T>G	ENSP00000494321.1:p.Ile1533Ser
ENST00000645004.1:n.2225T>G
ENST00000645076.1:c.3627T>G
ENST00000645417.1:c.1720T>G
ENST00000645744.1:c.*4217T>G	ENSP00000494564.1:n.*4217T>G
ENST00000645760.1:c.4953T>G
ENST00000645884.1:c.*1815T>G	ENSP00000495516.1:n.*1815T>G
ENST00000646003.1:c.*2554T>G	ENSP00000495259.1:n.*2554T>G
ENST00000646207.1:c.*3369T>G	ENSP00000495025.1:n.*3369T>G
ENST00000646276.1:c.*3936T>G	ENSP00000496070.1:n.*3936T>G
ENST00000646592.1:c.3838T>G
ENST00000646902.1:c.4499T>G	ENSP00000494101.1:p.Ile1500Ser
ENST00000646993.1:c.*2970T>G	ENSP00000493720.1:n.*2970T>G
ENST00000647015.1:c.4283T>G	ENSP00000495389.1:p.Ile1428Ser
ENST00000647086.1:c.*4118T>G	ENSP00000493677.1:n.*4118T>G
ENST00000647158.1:c.*2819T>G	ENSP00000495744.1:n.*2819T>G
ENST00000302539.8:c.4535T>G	ENSP00000303960.4:p.Ile1512Ser
ENST00000389817.7:c.4532T>G	ENSP00000374467.3:p.Ile1511Ser
ENST00000525022.1:n.427T>G
ENST00000526037.5:n.292T>G
ENST00000526168.5:c.320T>G
ENST00000531642.5:c.563T>G
NM_000352.4:c.4532T>G	NP_000343.2:p.Ile1511Ser
NM_001287174.1:c.4535T>G	NP_001274103.1:p.Ile1512Ser
XM_011520331.1:c.4532T>G	XP_011518633.1:p.Ile1511Ser
XM_011520332.1:c.4431T>G	XP_011518634.1:p.His1477Gln
XM_011520333.1:c.3032T>G	XP_011518635.1:p.Ile1011Ser
XR_930890.1:n.4494T>G
NM_001351295.1:c.4598T>G	NP_001338224.1:p.Ile1533Ser
NM_001351296.1:c.4532T>G	NP_001338225.1:p.Ile1511Ser
NM_001351297.1:c.4529T>G	NP_001338226.1:p.Ile1510Ser
NR_147094.1:n.4827T>G
XM_017018197.2:c.4601T>G	XP_016873686.1:p.Ile1534Ser
XM_017018199.1:c.4598T>G	XP_016873688.1:p.Ile1533Ser
XM_017018201.2:c.4497T>G	XP_016873690.1:p.His1499Gln
XM_017018202.1:c.3098T>G	XP_016873691.1:p.Ile1033Ser
XM_017018204.1:c.2489T>G	XP_016873693.1:p.Ile830Ser
XM_024448668.1:c.2900T>G	XP_024304436.1:p.Ile967Ser
XR_001747945.2:n.4569T>G
XR_001747946.2:n.4500T>G
XR_002957189.1:n.6283T>G
NM_000352.6:c.4532T>G MANE Select	NP_000343.2:p.Ile1511Ser
NM_001287174.2:c.4535T>G	NP_001274103.1:p.Ile1512Ser
NM_001351295.2:c.4598T>G	NP_001338224.1:p.Ile1533Ser
NM_001351296.2:c.4532T>G	NP_001338225.1:p.Ile1511Ser
NM_001351297.2:c.4529T>G	NP_001338226.1:p.Ile1510Ser
NR_147094.2:n.4827T>G
NM_001287174.3:c.4535T>G	NP_001274103.1:p.Ile1512Ser