Canonical Allele Identifier: CA379807381

Gene: ABCC8

Linked Data

• dbSNP Id: rs1307950397
• gnomAD v2: 11-17434227-T-C
• gnomAD v4: 11-17412680-T-C
• MyVariant Identifiers: chr11:g.17434227T>C (hg19) ; chr11:g.17412680T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412680T>C , CM000673.2:g.17412680T>C	GRCh38
NC_000011.9:g.17434227T>C , CM000673.1:g.17434227T>C	GRCh37
NC_000011.8:g.17390803T>C	NCBI36
NG_008867.1:g.69223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2211A>G
ENST00000529967.6:n.801A>G
ENST00000642611.2:n.2611A>G
ENST00000682051.1:n.2558A>G
ENST00000682110.1:n.2611A>G
ENST00000682140.1:c.2539A>G	ENSP00000507829.1:p.Asn847Asp
ENST00000682185.1:n.3847A>G
ENST00000682204.1:c.*680A>G	ENSP00000507094.1:n.*680A>G
ENST00000682215.1:n.2608A>G
ENST00000682288.1:c.*973A>G	ENSP00000507506.1:n.*973A>G
ENST00000682442.1:n.2732A>G
ENST00000682528.1:n.2608A>G
ENST00000682673.1:n.2555A>G
ENST00000682805.1:n.2608A>G
ENST00000682965.1:c.2539A>G	ENSP00000508229.1:p.Asn847Asp
ENST00000683093.1:n.2710A>G
ENST00000683136.1:c.2539A>G	ENSP00000507768.1:p.Asn847Asp
ENST00000683153.1:n.2767A>G
ENST00000683365.1:n.2713A>G
ENST00000683377.1:n.2611A>G
ENST00000683456.1:c.2542A>G	ENSP00000508318.1:p.Asn848Asp
ENST00000683522.1:n.2611A>G
ENST00000683562.1:c.*711A>G	ENSP00000508265.1:n.*711A>G
ENST00000683693.1:n.2608A>G
ENST00000683725.1:c.2542A>G	ENSP00000507496.1:p.Asn848Asp
ENST00000684010.1:n.2526A>G
ENST00000684157.1:n.2611A>G
ENST00000684253.1:n.2514A>G
ENST00000684288.1:c.*714A>G	ENSP00000507143.1:n.*714A>G
ENST00000684313.1:n.2043A>G
ENST00000684332.1:n.2684A>G
ENST00000684371.1:n.2717A>G
ENST00000684404.1:n.2608A>G
ENST00000684442.1:n.2611A>G
ENST00000684555.1:c.*754A>G	ENSP00000507705.1:n.*754A>G
ENST00000684571.1:c.2383A>G	ENSP00000506935.1:p.Asn795Asp
ENST00000684593.1:c.*2247A>G	ENSP00000507005.1:n.*2247A>G
ENST00000684711.1:c.*938A>G	ENSP00000506841.1:n.*938A>G
ENST00000302539.9:c.2545A>G	ENSP00000303960.4:p.Asn849Asp
ENST00000389817.8:c.2542A>G MANE Select	ENSP00000374467.4:p.Asn848Asp
ENST00000642271.1:c.2539A>G	ENSP00000493749.1:p.Asn847Asp
ENST00000642579.1:c.626A>G
ENST00000642611.1:n.2496A>G
ENST00000642902.1:c.2377A>G
ENST00000643260.1:c.2542A>G	ENSP00000494450.1:p.Asn848Asp
ENST00000643562.1:c.*518A>G	ENSP00000496124.1:n.*518A>G
ENST00000643925.1:c.586A>G
ENST00000644447.1:c.898A>G	ENSP00000496282.1:p.Asn300Asp
ENST00000644472.1:c.*903A>G	ENSP00000495378.1:n.*903A>G
ENST00000644484.1:c.*751A>G	ENSP00000493558.1:n.*751A>G
ENST00000644542.1:c.*2247A>G	ENSP00000495532.1:n.*2247A>G
ENST00000644675.1:c.*714A>G	ENSP00000494567.1:n.*714A>G
ENST00000644757.1:c.*847A>G	ENSP00000495085.1:n.*847A>G
ENST00000644772.1:c.2608A>G	ENSP00000494321.1:p.Asn870Asp
ENST00000645076.1:c.1794A>G
ENST00000645744.1:c.*906A>G	ENSP00000494564.1:n.*906A>G
ENST00000645760.1:c.2817A>G
ENST00000645884.1:c.2542A>G	ENSP00000495516.1:p.Asn848Asp
ENST00000646003.1:c.*598A>G	ENSP00000495259.1:n.*598A>G
ENST00000646207.1:c.*906A>G	ENSP00000495025.1:n.*906A>G
ENST00000646276.1:c.*815A>G	ENSP00000496070.1:n.*815A>G
ENST00000646592.1:c.1768A>G
ENST00000646902.1:c.2539A>G	ENSP00000494101.1:p.Asn847Asp
ENST00000646993.1:c.*938A>G	ENSP00000493720.1:n.*938A>G
ENST00000647013.1:c.2548A>G	ENSP00000496741.1:n.2548A>G
ENST00000647015.1:c.2293A>G	ENSP00000495389.1:p.Asn765Asp
ENST00000647086.1:c.*2272A>G	ENSP00000493677.1:n.*2272A>G
ENST00000647158.1:c.*683A>G	ENSP00000495744.1:n.*683A>G
ENST00000302539.8:c.2545A>G	ENSP00000303960.4:p.Asn849Asp
ENST00000389817.7:c.2542A>G	ENSP00000374467.3:p.Asn848Asp
ENST00000526921.5:n.226A>G
ENST00000527905.5:c.2512A>G	ENSP00000431653.1:p.Asn838Asp
ENST00000529967.5:n.211A>G
ENST00000530147.5:n.125A>G
ENST00000531911.1:n.656A>G
NM_000352.4:c.2542A>G	NP_000343.2:p.Asn848Asp
NM_001287174.1:c.2545A>G	NP_001274103.1:p.Asn849Asp
XM_011520331.1:c.2542A>G	XP_011518633.1:p.Asn848Asp
XM_011520332.1:c.2545A>G	XP_011518634.1:p.Asn849Asp
XM_011520333.1:c.1042A>G	XP_011518635.1:p.Asn348Asp
XM_011520334.1:c.2545A>G	XP_011518636.1:p.Asn849Asp
XR_930890.1:n.2608A>G
XR_930891.1:n.2608A>G
XR_930892.1:n.2608A>G
XR_930893.1:n.2605A>G
NM_001351295.1:c.2608A>G	NP_001338224.1:p.Asn870Asp
NM_001351296.1:c.2542A>G	NP_001338225.1:p.Asn848Asp
NM_001351297.1:c.2539A>G	NP_001338226.1:p.Asn847Asp
NR_147094.1:n.2611A>G
XM_017018197.2:c.2611A>G	XP_016873686.1:p.Asn871Asp
XM_017018199.1:c.2608A>G	XP_016873688.1:p.Asn870Asp
XM_017018201.2:c.2611A>G	XP_016873690.1:p.Asn871Asp
XM_017018202.1:c.1108A>G	XP_016873691.1:p.Asn370Asp
XM_017018204.1:c.499A>G	XP_016873693.1:p.Asn167Asp
XM_024448668.1:c.910A>G	XP_024304436.1:p.Asn304Asp
XR_001747945.2:n.2683A>G
XR_001747946.2:n.2614A>G
XR_002957189.1:n.2683A>G
NM_000352.6:c.2542A>G MANE Select	NP_000343.2:p.Asn848Asp
NM_001287174.2:c.2545A>G	NP_001274103.1:p.Asn849Asp
NM_001351295.2:c.2608A>G	NP_001338224.1:p.Asn870Asp
NM_001351296.2:c.2542A>G	NP_001338225.1:p.Asn848Asp
NM_001351297.2:c.2539A>G	NP_001338226.1:p.Asn847Asp
NR_147094.2:n.2611A>G
NM_001287174.3:c.2545A>G	NP_001274103.1:p.Asn849Asp