Canonical Allele Identifier: CA379798602

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426193G>T (hg19) ; chr11:g.17404646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404646G>T , CM000673.2:g.17404646G>T	GRCh38
NC_000011.9:g.17426193G>T , CM000673.1:g.17426193G>T	GRCh37
NC_000011.8:g.17382769G>T	NCBI36
NG_008867.1:g.77257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2992C>A
ENST00000528374.2:c.2C>A
ENST00000529967.6:n.1762C>A
ENST00000532220.2:n.1155C>A
ENST00000642611.2:n.3492C>A
ENST00000645004.2:n.922C>A
ENST00000682051.1:n.3439C>A
ENST00000682110.1:n.3492C>A
ENST00000682140.1:c.3420C>A	ENSP00000507829.1:p.Cys1140Ter
ENST00000682185.1:n.4728C>A
ENST00000682204.1:c.*1561C>A	ENSP00000507094.1:n.*1561C>A
ENST00000682215.1:n.3489C>A
ENST00000682288.1:c.*1854C>A	ENSP00000507506.1:n.*1854C>A
ENST00000682442.1:n.3712C>A
ENST00000682528.1:n.3569C>A
ENST00000682673.1:n.3436C>A
ENST00000682805.1:n.3489C>A
ENST00000682965.1:c.3396+848C>A	ENSP00000508229.1:n.3396+848C>A
ENST00000683093.1:n.3591C>A
ENST00000683136.1:c.3420C>A	ENSP00000507768.1:p.Cys1140Ter
ENST00000683153.1:n.3648C>A
ENST00000683365.1:n.3594C>A
ENST00000683377.1:n.3492C>A
ENST00000683456.1:c.*560C>A	ENSP00000508318.1:n.*560C>A
ENST00000683522.1:n.3492C>A
ENST00000683562.1:c.*1592C>A	ENSP00000508265.1:n.*1592C>A
ENST00000683693.1:n.3569C>A
ENST00000683725.1:c.3423C>A	ENSP00000507496.1:p.Cys1141Ter
ENST00000684010.1:n.3487C>A
ENST00000684157.1:n.3492C>A
ENST00000684253.1:n.3395C>A
ENST00000684288.1:c.*1595C>A	ENSP00000507143.1:n.*1595C>A
ENST00000684313.1:n.2924C>A
ENST00000684332.1:n.3565C>A
ENST00000684371.1:n.3598C>A
ENST00000684404.1:n.3535C>A
ENST00000684442.1:n.3492C>A
ENST00000684555.1:c.*1635C>A	ENSP00000507705.1:n.*1635C>A
ENST00000684571.1:c.3264C>A	ENSP00000506935.1:p.Cys1088Ter
ENST00000684593.1:c.*3128C>A	ENSP00000507005.1:n.*3128C>A
ENST00000684711.1:c.*1819C>A	ENSP00000506841.1:n.*1819C>A
ENST00000302539.9:c.3426C>A	ENSP00000303960.4:p.Cys1142Ter
ENST00000389817.8:c.3423C>A MANE Select	ENSP00000374467.4:p.Cys1141Ter
ENST00000642271.1:c.3420C>A	ENSP00000493749.1:p.Cys1140Ter
ENST00000642579.1:c.1507C>A
ENST00000642611.1:n.3377C>A
ENST00000642902.1:c.3205C>A
ENST00000643260.1:c.3423C>A	ENSP00000494450.1:p.Cys1141Ter
ENST00000643562.1:c.*1399C>A	ENSP00000496124.1:n.*1399C>A
ENST00000643925.1:c.1547C>A
ENST00000644447.1:c.1779C>A	ENSP00000496282.1:p.Cys593Ter
ENST00000644484.1:c.*1678C>A	ENSP00000493558.1:n.*1678C>A
ENST00000644675.1:c.*1595C>A	ENSP00000494567.1:n.*1595C>A
ENST00000644757.1:c.*1708C>A	ENSP00000495085.1:n.*1708C>A
ENST00000644772.1:c.3489C>A	ENSP00000494321.1:p.Cys1163Ter
ENST00000645004.1:n.562C>A
ENST00000645076.1:c.2622C>A
ENST00000645417.1:c.589C>A
ENST00000645744.1:c.*1687C>A	ENSP00000494564.1:n.*1687C>A
ENST00000645760.1:c.3698C>A
ENST00000645884.1:c.*560C>A	ENSP00000495516.1:n.*560C>A
ENST00000646003.1:c.*1379C>A	ENSP00000495259.1:n.*1379C>A
ENST00000646207.1:c.*1890C>A	ENSP00000495025.1:n.*1890C>A
ENST00000646276.1:c.*1696C>A	ENSP00000496070.1:n.*1696C>A
ENST00000646592.1:c.2729C>A
ENST00000646902.1:c.3420C>A	ENSP00000494101.1:p.Cys1140Ter
ENST00000646993.1:c.*1819C>A	ENSP00000493720.1:n.*1819C>A
ENST00000647013.1:c.3429C>A	ENSP00000496741.1:n.3429C>A
ENST00000647015.1:c.3174C>A	ENSP00000495389.1:p.Cys1058Ter
ENST00000647086.1:c.*3153C>A	ENSP00000493677.1:n.*3153C>A
ENST00000647158.1:c.*1564C>A	ENSP00000495744.1:n.*1564C>A
ENST00000302539.8:c.3426C>A	ENSP00000303960.4:p.Cys1142Ter
ENST00000389817.7:c.3423C>A	ENSP00000374467.3:p.Cys1141Ter
ENST00000524561.1:n.555C>A
ENST00000527905.5:c.*299C>A	ENSP00000431653.1:n.*299C>A
NM_000352.4:c.3423C>A	NP_000343.2:p.Cys1141Ter
NM_001287174.1:c.3426C>A	NP_001274103.1:p.Cys1142Ter
XM_011520331.1:c.3423C>A	XP_011518633.1:p.Cys1141Ter
XM_011520332.1:c.3426C>A	XP_011518634.1:p.Cys1142Ter
XM_011520333.1:c.1923C>A	XP_011518635.1:p.Cys641Ter
XR_930890.1:n.3489C>A
XR_930892.1:n.3389C>A
XR_930893.1:n.3386C>A
NM_001351295.1:c.3489C>A	NP_001338224.1:p.Cys1163Ter
NM_001351296.1:c.3423C>A	NP_001338225.1:p.Cys1141Ter
NM_001351297.1:c.3420C>A	NP_001338226.1:p.Cys1140Ter
NR_147094.1:n.3572C>A
XM_017018197.2:c.3492C>A	XP_016873686.1:p.Cys1164Ter
XM_017018199.1:c.3489C>A	XP_016873688.1:p.Cys1163Ter
XM_017018201.2:c.3492C>A	XP_016873690.1:p.Cys1164Ter
XM_017018202.1:c.1989C>A	XP_016873691.1:p.Cys663Ter
XM_017018204.1:c.1380C>A	XP_016873693.1:p.Cys460Ter
XM_024448668.1:c.1791C>A	XP_024304436.1:p.Cys597Ter
XR_001747945.2:n.3564C>A
XR_001747946.2:n.3495C>A
XR_002957189.1:n.3644C>A
NM_000352.6:c.3423C>A MANE Select	NP_000343.2:p.Cys1141Ter
NM_001287174.2:c.3426C>A	NP_001274103.1:p.Cys1142Ter
NM_001351295.2:c.3489C>A	NP_001338224.1:p.Cys1163Ter
NM_001351296.2:c.3423C>A	NP_001338225.1:p.Cys1141Ter
NM_001351297.2:c.3420C>A	NP_001338226.1:p.Cys1140Ter
NR_147094.2:n.3572C>A
NM_001287174.3:c.3426C>A	NP_001274103.1:p.Cys1142Ter