Canonical Allele Identifier: CA379797690

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404548-C-A
• MyVariant Identifiers: chr11:g.17426095C>A (hg19) ; chr11:g.17404548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404548C>A , CM000673.2:g.17404548C>A	GRCh38
NC_000011.9:g.17426095C>A , CM000673.1:g.17426095C>A	GRCh37
NC_000011.8:g.17382671C>A	NCBI36
NG_008867.1:g.77355G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3090G>T
ENST00000528374.2:c.100G>T
ENST00000529967.6:n.1860G>T
ENST00000532220.2:n.1253G>T
ENST00000642611.2:n.3590G>T
ENST00000645004.2:n.1020G>T
ENST00000682051.1:n.3537G>T
ENST00000682110.1:n.3590G>T
ENST00000682140.1:c.3518G>T	ENSP00000507829.1:p.Cys1173Phe
ENST00000682185.1:n.4826G>T
ENST00000682204.1:c.*1659G>T	ENSP00000507094.1:n.*1659G>T
ENST00000682215.1:n.3587G>T
ENST00000682288.1:c.*1952G>T	ENSP00000507506.1:n.*1952G>T
ENST00000682442.1:n.3810G>T
ENST00000682528.1:n.3667G>T
ENST00000682673.1:n.3534G>T
ENST00000682805.1:n.3587G>T
ENST00000682965.1:c.3396+946G>T	ENSP00000508229.1:n.3396+946G>T
ENST00000683093.1:n.3689G>T
ENST00000683136.1:c.3518G>T	ENSP00000507768.1:p.Cys1173Phe
ENST00000683153.1:n.3746G>T
ENST00000683365.1:n.3692G>T
ENST00000683377.1:n.3590G>T
ENST00000683456.1:c.*658G>T	ENSP00000508318.1:n.*658G>T
ENST00000683522.1:n.3590G>T
ENST00000683562.1:c.*1690G>T	ENSP00000508265.1:n.*1690G>T
ENST00000683693.1:n.3667G>T
ENST00000683725.1:c.3521G>T	ENSP00000507496.1:p.Cys1174Phe
ENST00000684010.1:n.3585G>T
ENST00000684157.1:n.3590G>T
ENST00000684253.1:n.3493G>T
ENST00000684288.1:c.*1693G>T	ENSP00000507143.1:n.*1693G>T
ENST00000684313.1:n.3022G>T
ENST00000684332.1:n.3663G>T
ENST00000684371.1:n.3696G>T
ENST00000684404.1:n.3633G>T
ENST00000684442.1:n.3590G>T
ENST00000684555.1:c.*1733G>T	ENSP00000507705.1:n.*1733G>T
ENST00000684571.1:c.3362G>T	ENSP00000506935.1:p.Cys1121Phe
ENST00000684593.1:c.*3226G>T	ENSP00000507005.1:n.*3226G>T
ENST00000684711.1:c.*1917G>T	ENSP00000506841.1:n.*1917G>T
ENST00000302539.9:c.3524G>T	ENSP00000303960.4:p.Cys1175Phe
ENST00000389817.8:c.3521G>T MANE Select	ENSP00000374467.4:p.Cys1174Phe
ENST00000642271.1:c.3518G>T	ENSP00000493749.1:p.Cys1173Phe
ENST00000642579.1:c.1605G>T
ENST00000642611.1:n.3475G>T
ENST00000642902.1:c.3303G>T
ENST00000643260.1:c.3521G>T	ENSP00000494450.1:p.Cys1174Phe
ENST00000643562.1:c.*1497G>T	ENSP00000496124.1:n.*1497G>T
ENST00000643925.1:c.1645G>T
ENST00000644447.1:c.1877G>T	ENSP00000496282.1:p.Cys626Phe
ENST00000644484.1:c.*1776G>T	ENSP00000493558.1:n.*1776G>T
ENST00000644675.1:c.*1693G>T	ENSP00000494567.1:n.*1693G>T
ENST00000644757.1:c.*1806G>T	ENSP00000495085.1:n.*1806G>T
ENST00000644772.1:c.3587G>T	ENSP00000494321.1:p.Cys1196Phe
ENST00000645004.1:n.660G>T
ENST00000645076.1:c.2720G>T
ENST00000645417.1:c.687G>T
ENST00000645744.1:c.*1785G>T	ENSP00000494564.1:n.*1785G>T
ENST00000645760.1:c.3796G>T
ENST00000645884.1:c.*658G>T	ENSP00000495516.1:n.*658G>T
ENST00000646003.1:c.*1477G>T	ENSP00000495259.1:n.*1477G>T
ENST00000646207.1:c.*1988G>T	ENSP00000495025.1:n.*1988G>T
ENST00000646276.1:c.*1794G>T	ENSP00000496070.1:n.*1794G>T
ENST00000646592.1:c.2827G>T
ENST00000646902.1:c.3518G>T	ENSP00000494101.1:p.Cys1173Phe
ENST00000646993.1:c.*1917G>T	ENSP00000493720.1:n.*1917G>T
ENST00000647013.1:c.3527G>T	ENSP00000496741.1:n.3527G>T
ENST00000647015.1:c.3272G>T	ENSP00000495389.1:p.Cys1091Phe
ENST00000647086.1:c.*3251G>T	ENSP00000493677.1:n.*3251G>T
ENST00000647158.1:c.*1662G>T	ENSP00000495744.1:n.*1662G>T
ENST00000302539.8:c.3524G>T	ENSP00000303960.4:p.Cys1175Phe
ENST00000389817.7:c.3521G>T	ENSP00000374467.3:p.Cys1174Phe
ENST00000524561.1:n.653G>T
ENST00000527905.5:c.*397G>T	ENSP00000431653.1:n.*397G>T
ENST00000531137.1:n.14G>T
NM_000352.4:c.3521G>T	NP_000343.2:p.Cys1174Phe
NM_001287174.1:c.3524G>T	NP_001274103.1:p.Cys1175Phe
XM_011520331.1:c.3521G>T	XP_011518633.1:p.Cys1174Phe
XM_011520332.1:c.3524G>T	XP_011518634.1:p.Cys1175Phe
XM_011520333.1:c.2021G>T	XP_011518635.1:p.Cys674Phe
XR_930890.1:n.3587G>T
XR_930892.1:n.3487G>T
XR_930893.1:n.3484G>T
NM_001351295.1:c.3587G>T	NP_001338224.1:p.Cys1196Phe
NM_001351296.1:c.3521G>T	NP_001338225.1:p.Cys1174Phe
NM_001351297.1:c.3518G>T	NP_001338226.1:p.Cys1173Phe
NR_147094.1:n.3670G>T
XM_017018197.2:c.3590G>T	XP_016873686.1:p.Cys1197Phe
XM_017018199.1:c.3587G>T	XP_016873688.1:p.Cys1196Phe
XM_017018201.2:c.3590G>T	XP_016873690.1:p.Cys1197Phe
XM_017018202.1:c.2087G>T	XP_016873691.1:p.Cys696Phe
XM_017018204.1:c.1478G>T	XP_016873693.1:p.Cys493Phe
XM_024448668.1:c.1889G>T	XP_024304436.1:p.Cys630Phe
XR_001747945.2:n.3662G>T
XR_001747946.2:n.3593G>T
XR_002957189.1:n.3742G>T
NM_000352.6:c.3521G>T MANE Select	NP_000343.2:p.Cys1174Phe
NM_001287174.2:c.3524G>T	NP_001274103.1:p.Cys1175Phe
NM_001351295.2:c.3587G>T	NP_001338224.1:p.Cys1196Phe
NM_001351296.2:c.3521G>T	NP_001338225.1:p.Cys1174Phe
NM_001351297.2:c.3518G>T	NP_001338226.1:p.Cys1173Phe
NR_147094.2:n.3670G>T
NM_001287174.3:c.3524G>T	NP_001274103.1:p.Cys1175Phe