Canonical Allele Identifier: CA674211597

Gene: ABCC8

Linked Data

• dbSNP Id: rs1466643609
• gnomAD v3: 11-17410446-T-C
• gnomAD v4: 11-17410446-T-C
• MyVariant Identifiers: chr11:g.17431993T>C (hg19) ; chr11:g.17410446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410446T>C , CM000673.2:g.17410446T>C	GRCh38
NC_000011.9:g.17431993T>C , CM000673.1:g.17431993T>C	GRCh37
NC_000011.8:g.17388569T>C	NCBI36
NG_008867.1:g.71457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2363+70A>G
ENST00000529967.6:n.953+70A>G
ENST00000642611.2:n.2763+70A>G
ENST00000682051.1:n.2710+70A>G
ENST00000682110.1:n.2763+70A>G
ENST00000682140.1:c.2691+70A>G	ENSP00000507829.1:n.2691+70A>G
ENST00000682185.1:n.3999+70A>G
ENST00000682204.1:c.*832+70A>G	ENSP00000507094.1:n.*832+70A>G
ENST00000682215.1:n.2760+70A>G
ENST00000682288.1:c.*1125+70A>G	ENSP00000507506.1:n.*1125+70A>G
ENST00000682442.1:n.2884+70A>G
ENST00000682528.1:n.2760+70A>G
ENST00000682673.1:n.2707+70A>G
ENST00000682805.1:n.2760+70A>G
ENST00000682965.1:c.2691+70A>G	ENSP00000508229.1:n.2691+70A>G
ENST00000683093.1:n.2862+70A>G
ENST00000683136.1:c.2691+70A>G	ENSP00000507768.1:n.2691+70A>G
ENST00000683153.1:n.2919+70A>G
ENST00000683365.1:n.2865+70A>G
ENST00000683377.1:n.2763+70A>G
ENST00000683456.1:c.2694+70A>G	ENSP00000508318.1:n.2694+70A>G
ENST00000683522.1:n.2763+70A>G
ENST00000683562.1:c.*863+70A>G	ENSP00000508265.1:n.*863+70A>G
ENST00000683693.1:n.2760+70A>G
ENST00000683725.1:c.2694+70A>G	ENSP00000507496.1:n.2694+70A>G
ENST00000684010.1:n.2678+70A>G
ENST00000684157.1:n.2763+70A>G
ENST00000684253.1:n.2666+70A>G
ENST00000684288.1:c.*866+70A>G	ENSP00000507143.1:n.*866+70A>G
ENST00000684313.1:n.2195+70A>G
ENST00000684332.1:n.2836+70A>G
ENST00000684371.1:n.2869+70A>G
ENST00000684404.1:n.2760+70A>G
ENST00000684442.1:n.2763+70A>G
ENST00000684555.1:c.*906+70A>G	ENSP00000507705.1:n.*906+70A>G
ENST00000684571.1:c.2535+70A>G	ENSP00000506935.1:n.2535+70A>G
ENST00000684593.1:c.*2399+70A>G	ENSP00000507005.1:n.*2399+70A>G
ENST00000684711.1:c.*1090+70A>G	ENSP00000506841.1:n.*1090+70A>G
ENST00000302539.9:c.2697+70A>G	ENSP00000303960.4:n.2697+70A>G
ENST00000389817.8:c.2694+70A>G MANE Select	ENSP00000374467.4:n.2694+70A>G
ENST00000642271.1:c.2691+70A>G	ENSP00000493749.1:n.2691+70A>G
ENST00000642579.1:c.778+70A>G
ENST00000642611.1:n.2648+70A>G
ENST00000642902.1:c.2529+70A>G
ENST00000643260.1:c.2694+70A>G	ENSP00000494450.1:n.2694+70A>G
ENST00000643562.1:c.*670+70A>G	ENSP00000496124.1:n.*670+70A>G
ENST00000643925.1:c.738+70A>G
ENST00000644447.1:c.1050+70A>G	ENSP00000496282.1:n.1050+70A>G
ENST00000644472.1:c.*1055+70A>G	ENSP00000495378.1:n.*1055+70A>G
ENST00000644484.1:c.*903+70A>G	ENSP00000493558.1:n.*903+70A>G
ENST00000644542.1:c.*2399+70A>G	ENSP00000495532.1:n.*2399+70A>G
ENST00000644675.1:c.*866+70A>G	ENSP00000494567.1:n.*866+70A>G
ENST00000644757.1:c.*999+70A>G	ENSP00000495085.1:n.*999+70A>G
ENST00000644772.1:c.2760+70A>G	ENSP00000494321.1:n.2760+70A>G
ENST00000645076.1:c.1946+70A>G
ENST00000645744.1:c.*1058+70A>G	ENSP00000494564.1:n.*1058+70A>G
ENST00000645760.1:c.2969+70A>G
ENST00000645884.1:c.2694+70A>G	ENSP00000495516.1:n.2694+70A>G
ENST00000646003.1:c.*750+70A>G	ENSP00000495259.1:n.*750+70A>G
ENST00000646207.1:c.*1058+70A>G	ENSP00000495025.1:n.*1058+70A>G
ENST00000646276.1:c.*967+70A>G	ENSP00000496070.1:n.*967+70A>G
ENST00000646592.1:c.1920+70A>G
ENST00000646902.1:c.2691+70A>G	ENSP00000494101.1:n.2691+70A>G
ENST00000646993.1:c.*1090+70A>G	ENSP00000493720.1:n.*1090+70A>G
ENST00000647013.1:c.2700+70A>G	ENSP00000496741.1:n.2700+70A>G
ENST00000647015.1:c.2445+70A>G	ENSP00000495389.1:n.2445+70A>G
ENST00000647086.1:c.*2424+70A>G	ENSP00000493677.1:n.*2424+70A>G
ENST00000647158.1:c.*835+70A>G	ENSP00000495744.1:n.*835+70A>G
ENST00000302539.8:c.2697+70A>G	ENSP00000303960.4:n.2697+70A>G
ENST00000389817.7:c.2694+70A>G	ENSP00000374467.3:n.2694+70A>G
ENST00000526921.5:n.378+70A>G
ENST00000527905.5:c.2664+70A>G	ENSP00000431653.1:n.2664+70A>G
ENST00000529967.5:n.363+70A>G
ENST00000530147.5:n.347A>G
NM_000352.4:c.2694+70A>G	NP_000343.2:n.2694+70A>G
NM_001287174.1:c.2697+70A>G	NP_001274103.1:n.2697+70A>G
XM_011520331.1:c.2694+70A>G	XP_011518633.1:n.2694+70A>G
XM_011520332.1:c.2697+70A>G	XP_011518634.1:n.2697+70A>G
XM_011520333.1:c.1194+70A>G	XP_011518635.1:n.1194+70A>G
XM_011520334.1:c.2697+70A>G	XP_011518636.1:n.2697+70A>G
XR_930890.1:n.2760+70A>G
XR_930891.1:n.2760+70A>G
XR_930892.1:n.2760+70A>G
XR_930893.1:n.2757+70A>G
NM_001351295.1:c.2760+70A>G	NP_001338224.1:n.2760+70A>G
NM_001351296.1:c.2694+70A>G	NP_001338225.1:n.2694+70A>G
NM_001351297.1:c.2691+70A>G	NP_001338226.1:n.2691+70A>G
NR_147094.1:n.2763+70A>G
XM_017018197.2:c.2763+70A>G	XP_016873686.1:n.2763+70A>G
XM_017018199.1:c.2760+70A>G	XP_016873688.1:n.2760+70A>G
XM_017018201.2:c.2763+70A>G	XP_016873690.1:n.2763+70A>G
XM_017018202.1:c.1260+70A>G	XP_016873691.1:n.1260+70A>G
XM_017018204.1:c.651+70A>G	XP_016873693.1:n.651+70A>G
XM_024448668.1:c.1062+70A>G	XP_024304436.1:n.1062+70A>G
XR_001747945.2:n.2835+70A>G
XR_001747946.2:n.2766+70A>G
XR_002957189.1:n.2835+70A>G
NM_000352.6:c.2694+70A>G MANE Select	NP_000343.2:n.2694+70A>G
NM_001287174.2:c.2697+70A>G	NP_001274103.1:n.2697+70A>G
NM_001351295.2:c.2760+70A>G	NP_001338224.1:n.2760+70A>G
NM_001351296.2:c.2694+70A>G	NP_001338225.1:n.2694+70A>G
NM_001351297.2:c.2691+70A>G	NP_001338226.1:n.2691+70A>G
NR_147094.2:n.2763+70A>G
NM_001287174.3:c.2697+70A>G	NP_001274103.1:n.2697+70A>G