Canonical Allele Identifier: CA379807357

Gene: ABCC8

Linked Data

• dbSNP Id: rs1381056397
• gnomAD v2: 11-17434221-C-A
• gnomAD v3: 11-17412674-C-A
• gnomAD v4: 11-17412674-C-A
• MyVariant Identifiers: chr11:g.17434221C>A (hg19) ; chr11:g.17412674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412674C>A , CM000673.2:g.17412674C>A	GRCh38
NC_000011.9:g.17434221C>A , CM000673.1:g.17434221C>A	GRCh37
NC_000011.8:g.17390797C>A	NCBI36
NG_008867.1:g.69229G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2217G>T
ENST00000529967.6:n.807G>T
ENST00000642611.2:n.2617G>T
ENST00000682051.1:n.2564G>T
ENST00000682110.1:n.2617G>T
ENST00000682140.1:c.2545G>T	ENSP00000507829.1:p.Val849Phe
ENST00000682185.1:n.3853G>T
ENST00000682204.1:c.*686G>T	ENSP00000507094.1:n.*686G>T
ENST00000682215.1:n.2614G>T
ENST00000682288.1:c.*979G>T	ENSP00000507506.1:n.*979G>T
ENST00000682442.1:n.2738G>T
ENST00000682528.1:n.2614G>T
ENST00000682673.1:n.2561G>T
ENST00000682805.1:n.2614G>T
ENST00000682965.1:c.2545G>T	ENSP00000508229.1:p.Val849Phe
ENST00000683093.1:n.2716G>T
ENST00000683136.1:c.2545G>T	ENSP00000507768.1:p.Val849Phe
ENST00000683153.1:n.2773G>T
ENST00000683365.1:n.2719G>T
ENST00000683377.1:n.2617G>T
ENST00000683456.1:c.2548G>T	ENSP00000508318.1:p.Val850Phe
ENST00000683522.1:n.2617G>T
ENST00000683562.1:c.*717G>T	ENSP00000508265.1:n.*717G>T
ENST00000683693.1:n.2614G>T
ENST00000683725.1:c.2548G>T	ENSP00000507496.1:p.Val850Phe
ENST00000684010.1:n.2532G>T
ENST00000684157.1:n.2617G>T
ENST00000684253.1:n.2520G>T
ENST00000684288.1:c.*720G>T	ENSP00000507143.1:n.*720G>T
ENST00000684313.1:n.2049G>T
ENST00000684332.1:n.2690G>T
ENST00000684371.1:n.2723G>T
ENST00000684404.1:n.2614G>T
ENST00000684442.1:n.2617G>T
ENST00000684555.1:c.*760G>T	ENSP00000507705.1:n.*760G>T
ENST00000684571.1:c.2389G>T	ENSP00000506935.1:p.Val797Phe
ENST00000684593.1:c.*2253G>T	ENSP00000507005.1:n.*2253G>T
ENST00000684711.1:c.*944G>T	ENSP00000506841.1:n.*944G>T
ENST00000302539.9:c.2551G>T	ENSP00000303960.4:p.Val851Phe
ENST00000389817.8:c.2548G>T MANE Select	ENSP00000374467.4:p.Val850Phe
ENST00000642271.1:c.2545G>T	ENSP00000493749.1:p.Val849Phe
ENST00000642579.1:c.632G>T
ENST00000642611.1:n.2502G>T
ENST00000642902.1:c.2383G>T
ENST00000643260.1:c.2548G>T	ENSP00000494450.1:p.Val850Phe
ENST00000643562.1:c.*524G>T	ENSP00000496124.1:n.*524G>T
ENST00000643925.1:c.592G>T
ENST00000644447.1:c.904G>T	ENSP00000496282.1:p.Val302Phe
ENST00000644472.1:c.*909G>T	ENSP00000495378.1:n.*909G>T
ENST00000644484.1:c.*757G>T	ENSP00000493558.1:n.*757G>T
ENST00000644542.1:c.*2253G>T	ENSP00000495532.1:n.*2253G>T
ENST00000644675.1:c.*720G>T	ENSP00000494567.1:n.*720G>T
ENST00000644757.1:c.*853G>T	ENSP00000495085.1:n.*853G>T
ENST00000644772.1:c.2614G>T	ENSP00000494321.1:p.Val872Phe
ENST00000645076.1:c.1800G>T
ENST00000645744.1:c.*912G>T	ENSP00000494564.1:n.*912G>T
ENST00000645760.1:c.2823G>T
ENST00000645884.1:c.2548G>T	ENSP00000495516.1:p.Val850Phe
ENST00000646003.1:c.*604G>T	ENSP00000495259.1:n.*604G>T
ENST00000646207.1:c.*912G>T	ENSP00000495025.1:n.*912G>T
ENST00000646276.1:c.*821G>T	ENSP00000496070.1:n.*821G>T
ENST00000646592.1:c.1774G>T
ENST00000646902.1:c.2545G>T	ENSP00000494101.1:p.Val849Phe
ENST00000646993.1:c.*944G>T	ENSP00000493720.1:n.*944G>T
ENST00000647013.1:c.2554G>T	ENSP00000496741.1:n.2554G>T
ENST00000647015.1:c.2299G>T	ENSP00000495389.1:p.Val767Phe
ENST00000647086.1:c.*2278G>T	ENSP00000493677.1:n.*2278G>T
ENST00000647158.1:c.*689G>T	ENSP00000495744.1:n.*689G>T
ENST00000302539.8:c.2551G>T	ENSP00000303960.4:p.Val851Phe
ENST00000389817.7:c.2548G>T	ENSP00000374467.3:p.Val850Phe
ENST00000526921.5:n.232G>T
ENST00000527905.5:c.2518G>T	ENSP00000431653.1:p.Val840Phe
ENST00000529967.5:n.217G>T
ENST00000530147.5:n.131G>T
ENST00000531911.1:n.662G>T
NM_000352.4:c.2548G>T	NP_000343.2:p.Val850Phe
NM_001287174.1:c.2551G>T	NP_001274103.1:p.Val851Phe
XM_011520331.1:c.2548G>T	XP_011518633.1:p.Val850Phe
XM_011520332.1:c.2551G>T	XP_011518634.1:p.Val851Phe
XM_011520333.1:c.1048G>T	XP_011518635.1:p.Val350Phe
XM_011520334.1:c.2551G>T	XP_011518636.1:p.Val851Phe
XR_930890.1:n.2614G>T
XR_930891.1:n.2614G>T
XR_930892.1:n.2614G>T
XR_930893.1:n.2611G>T
NM_001351295.1:c.2614G>T	NP_001338224.1:p.Val872Phe
NM_001351296.1:c.2548G>T	NP_001338225.1:p.Val850Phe
NM_001351297.1:c.2545G>T	NP_001338226.1:p.Val849Phe
NR_147094.1:n.2617G>T
XM_017018197.2:c.2617G>T	XP_016873686.1:p.Val873Phe
XM_017018199.1:c.2614G>T	XP_016873688.1:p.Val872Phe
XM_017018201.2:c.2617G>T	XP_016873690.1:p.Val873Phe
XM_017018202.1:c.1114G>T	XP_016873691.1:p.Val372Phe
XM_017018204.1:c.505G>T	XP_016873693.1:p.Val169Phe
XM_024448668.1:c.916G>T	XP_024304436.1:p.Val306Phe
XR_001747945.2:n.2689G>T
XR_001747946.2:n.2620G>T
XR_002957189.1:n.2689G>T
NM_000352.6:c.2548G>T MANE Select	NP_000343.2:p.Val850Phe
NM_001287174.2:c.2551G>T	NP_001274103.1:p.Val851Phe
NM_001351295.2:c.2614G>T	NP_001338224.1:p.Val872Phe
NM_001351296.2:c.2548G>T	NP_001338225.1:p.Val850Phe
NM_001351297.2:c.2545G>T	NP_001338226.1:p.Val849Phe
NR_147094.2:n.2617G>T
NM_001287174.3:c.2551G>T	NP_001274103.1:p.Val851Phe