Canonical Allele Identifier: CA379798007

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426127G>T (hg19) ; chr11:g.17404580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404580G>T , CM000673.2:g.17404580G>T	GRCh38
NC_000011.9:g.17426127G>T , CM000673.1:g.17426127G>T	GRCh37
NC_000011.8:g.17382703G>T	NCBI36
NG_008867.1:g.77323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3058C>A
ENST00000528374.2:c.68C>A
ENST00000529967.6:n.1828C>A
ENST00000532220.2:n.1221C>A
ENST00000642611.2:n.3558C>A
ENST00000645004.2:n.988C>A
ENST00000682051.1:n.3505C>A
ENST00000682110.1:n.3558C>A
ENST00000682140.1:c.3486C>A	ENSP00000507829.1:p.Phe1162Leu
ENST00000682185.1:n.4794C>A
ENST00000682204.1:c.*1627C>A	ENSP00000507094.1:n.*1627C>A
ENST00000682215.1:n.3555C>A
ENST00000682288.1:c.*1920C>A	ENSP00000507506.1:n.*1920C>A
ENST00000682442.1:n.3778C>A
ENST00000682528.1:n.3635C>A
ENST00000682673.1:n.3502C>A
ENST00000682805.1:n.3555C>A
ENST00000682965.1:c.3396+914C>A	ENSP00000508229.1:n.3396+914C>A
ENST00000683093.1:n.3657C>A
ENST00000683136.1:c.3486C>A	ENSP00000507768.1:p.Phe1162Leu
ENST00000683153.1:n.3714C>A
ENST00000683365.1:n.3660C>A
ENST00000683377.1:n.3558C>A
ENST00000683456.1:c.*626C>A	ENSP00000508318.1:n.*626C>A
ENST00000683522.1:n.3558C>A
ENST00000683562.1:c.*1658C>A	ENSP00000508265.1:n.*1658C>A
ENST00000683693.1:n.3635C>A
ENST00000683725.1:c.3489C>A	ENSP00000507496.1:p.Phe1163Leu
ENST00000684010.1:n.3553C>A
ENST00000684157.1:n.3558C>A
ENST00000684253.1:n.3461C>A
ENST00000684288.1:c.*1661C>A	ENSP00000507143.1:n.*1661C>A
ENST00000684313.1:n.2990C>A
ENST00000684332.1:n.3631C>A
ENST00000684371.1:n.3664C>A
ENST00000684404.1:n.3601C>A
ENST00000684442.1:n.3558C>A
ENST00000684555.1:c.*1701C>A	ENSP00000507705.1:n.*1701C>A
ENST00000684571.1:c.3330C>A	ENSP00000506935.1:p.Phe1110Leu
ENST00000684593.1:c.*3194C>A	ENSP00000507005.1:n.*3194C>A
ENST00000684711.1:c.*1885C>A	ENSP00000506841.1:n.*1885C>A
ENST00000302539.9:c.3492C>A	ENSP00000303960.4:p.Phe1164Leu
ENST00000389817.8:c.3489C>A MANE Select	ENSP00000374467.4:p.Phe1163Leu
ENST00000642271.1:c.3486C>A	ENSP00000493749.1:p.Phe1162Leu
ENST00000642579.1:c.1573C>A
ENST00000642611.1:n.3443C>A
ENST00000642902.1:c.3271C>A
ENST00000643260.1:c.3489C>A	ENSP00000494450.1:p.Phe1163Leu
ENST00000643562.1:c.*1465C>A	ENSP00000496124.1:n.*1465C>A
ENST00000643925.1:c.1613C>A
ENST00000644447.1:c.1845C>A	ENSP00000496282.1:p.Phe615Leu
ENST00000644484.1:c.*1744C>A	ENSP00000493558.1:n.*1744C>A
ENST00000644675.1:c.*1661C>A	ENSP00000494567.1:n.*1661C>A
ENST00000644757.1:c.*1774C>A	ENSP00000495085.1:n.*1774C>A
ENST00000644772.1:c.3555C>A	ENSP00000494321.1:p.Phe1185Leu
ENST00000645004.1:n.628C>A
ENST00000645076.1:c.2688C>A
ENST00000645417.1:c.655C>A
ENST00000645744.1:c.*1753C>A	ENSP00000494564.1:n.*1753C>A
ENST00000645760.1:c.3764C>A
ENST00000645884.1:c.*626C>A	ENSP00000495516.1:n.*626C>A
ENST00000646003.1:c.*1445C>A	ENSP00000495259.1:n.*1445C>A
ENST00000646207.1:c.*1956C>A	ENSP00000495025.1:n.*1956C>A
ENST00000646276.1:c.*1762C>A	ENSP00000496070.1:n.*1762C>A
ENST00000646592.1:c.2795C>A
ENST00000646902.1:c.3486C>A	ENSP00000494101.1:p.Phe1162Leu
ENST00000646993.1:c.*1885C>A	ENSP00000493720.1:n.*1885C>A
ENST00000647013.1:c.3495C>A	ENSP00000496741.1:n.3495C>A
ENST00000647015.1:c.3240C>A	ENSP00000495389.1:p.Phe1080Leu
ENST00000647086.1:c.*3219C>A	ENSP00000493677.1:n.*3219C>A
ENST00000647158.1:c.*1630C>A	ENSP00000495744.1:n.*1630C>A
ENST00000302539.8:c.3492C>A	ENSP00000303960.4:p.Phe1164Leu
ENST00000389817.7:c.3489C>A	ENSP00000374467.3:p.Phe1163Leu
ENST00000524561.1:n.621C>A
ENST00000527905.5:c.*365C>A	ENSP00000431653.1:n.*365C>A
NM_000352.4:c.3489C>A	NP_000343.2:p.Phe1163Leu
NM_001287174.1:c.3492C>A	NP_001274103.1:p.Phe1164Leu
XM_011520331.1:c.3489C>A	XP_011518633.1:p.Phe1163Leu
XM_011520332.1:c.3492C>A	XP_011518634.1:p.Phe1164Leu
XM_011520333.1:c.1989C>A	XP_011518635.1:p.Phe663Leu
XR_930890.1:n.3555C>A
XR_930892.1:n.3455C>A
XR_930893.1:n.3452C>A
NM_001351295.1:c.3555C>A	NP_001338224.1:p.Phe1185Leu
NM_001351296.1:c.3489C>A	NP_001338225.1:p.Phe1163Leu
NM_001351297.1:c.3486C>A	NP_001338226.1:p.Phe1162Leu
NR_147094.1:n.3638C>A
XM_017018197.2:c.3558C>A	XP_016873686.1:p.Phe1186Leu
XM_017018199.1:c.3555C>A	XP_016873688.1:p.Phe1185Leu
XM_017018201.2:c.3558C>A	XP_016873690.1:p.Phe1186Leu
XM_017018202.1:c.2055C>A	XP_016873691.1:p.Phe685Leu
XM_017018204.1:c.1446C>A	XP_016873693.1:p.Phe482Leu
XM_024448668.1:c.1857C>A	XP_024304436.1:p.Phe619Leu
XR_001747945.2:n.3630C>A
XR_001747946.2:n.3561C>A
XR_002957189.1:n.3710C>A
NM_000352.6:c.3489C>A MANE Select	NP_000343.2:p.Phe1163Leu
NM_001287174.2:c.3492C>A	NP_001274103.1:p.Phe1164Leu
NM_001351295.2:c.3555C>A	NP_001338224.1:p.Phe1185Leu
NM_001351296.2:c.3489C>A	NP_001338225.1:p.Phe1163Leu
NM_001351297.2:c.3486C>A	NP_001338226.1:p.Phe1162Leu
NR_147094.2:n.3638C>A
NM_001287174.3:c.3492C>A	NP_001274103.1:p.Phe1164Leu