Canonical Allele Identifier: CA473299693

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 3001835
• ClinVar RCV Id: RCV003862898
• dbSNP Id: rs1044800524
• MyVariant Identifiers: chr11:g.17426160G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404613G>A , CM000673.2:g.17404613G>A	GRCh38
NC_000011.9:g.17426160G>A , CM000673.1:g.17426160G>A	GRCh37
NC_000011.8:g.17382736G>A	NCBI36
NG_008867.1:g.77290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3025C>T
ENST00000528374.2:c.35C>T
ENST00000529967.6:n.1795C>T
ENST00000532220.2:n.1188C>T
ENST00000642611.2:n.3525C>T
ENST00000645004.2:n.955C>T
ENST00000682051.1:n.3472C>T
ENST00000682110.1:n.3525C>T
ENST00000682140.1:c.3453C>T	ENSP00000507829.1:p.Ala1151=
ENST00000682185.1:n.4761C>T
ENST00000682204.1:c.*1594C>T	ENSP00000507094.1:n.*1594C>T
ENST00000682215.1:n.3522C>T
ENST00000682288.1:c.*1887C>T	ENSP00000507506.1:n.*1887C>T
ENST00000682442.1:n.3745C>T
ENST00000682528.1:n.3602C>T
ENST00000682673.1:n.3469C>T
ENST00000682805.1:n.3522C>T
ENST00000682965.1:c.3396+881C>T	ENSP00000508229.1:n.3396+881C>T
ENST00000683093.1:n.3624C>T
ENST00000683136.1:c.3453C>T	ENSP00000507768.1:p.Ala1151=
ENST00000683153.1:n.3681C>T
ENST00000683365.1:n.3627C>T
ENST00000683377.1:n.3525C>T
ENST00000683456.1:c.*593C>T	ENSP00000508318.1:n.*593C>T
ENST00000683522.1:n.3525C>T
ENST00000683562.1:c.*1625C>T	ENSP00000508265.1:n.*1625C>T
ENST00000683693.1:n.3602C>T
ENST00000683725.1:c.3456C>T	ENSP00000507496.1:p.Ala1152=
ENST00000684010.1:n.3520C>T
ENST00000684157.1:n.3525C>T
ENST00000684253.1:n.3428C>T
ENST00000684288.1:c.*1628C>T	ENSP00000507143.1:n.*1628C>T
ENST00000684313.1:n.2957C>T
ENST00000684332.1:n.3598C>T
ENST00000684371.1:n.3631C>T
ENST00000684404.1:n.3568C>T
ENST00000684442.1:n.3525C>T
ENST00000684555.1:c.*1668C>T	ENSP00000507705.1:n.*1668C>T
ENST00000684571.1:c.3297C>T	ENSP00000506935.1:p.Ala1099=
ENST00000684593.1:c.*3161C>T	ENSP00000507005.1:n.*3161C>T
ENST00000684711.1:c.*1852C>T	ENSP00000506841.1:n.*1852C>T
ENST00000302539.9:c.3459C>T	ENSP00000303960.4:p.Ala1153=
ENST00000389817.8:c.3456C>T MANE Select	ENSP00000374467.4:p.Ala1152=
ENST00000642271.1:c.3453C>T	ENSP00000493749.1:p.Ala1151=
ENST00000642579.1:c.1540C>T
ENST00000642611.1:n.3410C>T
ENST00000642902.1:c.3238C>T
ENST00000643260.1:c.3456C>T	ENSP00000494450.1:p.Ala1152=
ENST00000643562.1:c.*1432C>T	ENSP00000496124.1:n.*1432C>T
ENST00000643925.1:c.1580C>T
ENST00000644447.1:c.1812C>T	ENSP00000496282.1:p.Ala604=
ENST00000644484.1:c.*1711C>T	ENSP00000493558.1:n.*1711C>T
ENST00000644675.1:c.*1628C>T	ENSP00000494567.1:n.*1628C>T
ENST00000644757.1:c.*1741C>T	ENSP00000495085.1:n.*1741C>T
ENST00000644772.1:c.3522C>T	ENSP00000494321.1:p.Ala1174=
ENST00000645004.1:n.595C>T
ENST00000645076.1:c.2655C>T
ENST00000645417.1:c.622C>T
ENST00000645744.1:c.*1720C>T	ENSP00000494564.1:n.*1720C>T
ENST00000645760.1:c.3731C>T
ENST00000645884.1:c.*593C>T	ENSP00000495516.1:n.*593C>T
ENST00000646003.1:c.*1412C>T	ENSP00000495259.1:n.*1412C>T
ENST00000646207.1:c.*1923C>T	ENSP00000495025.1:n.*1923C>T
ENST00000646276.1:c.*1729C>T	ENSP00000496070.1:n.*1729C>T
ENST00000646592.1:c.2762C>T
ENST00000646902.1:c.3453C>T	ENSP00000494101.1:p.Ala1151=
ENST00000646993.1:c.*1852C>T	ENSP00000493720.1:n.*1852C>T
ENST00000647013.1:c.3462C>T	ENSP00000496741.1:n.3462C>T
ENST00000647015.1:c.3207C>T	ENSP00000495389.1:p.Ala1069=
ENST00000647086.1:c.*3186C>T	ENSP00000493677.1:n.*3186C>T
ENST00000647158.1:c.*1597C>T	ENSP00000495744.1:n.*1597C>T
ENST00000302539.8:c.3459C>T	ENSP00000303960.4:p.Ala1153=
ENST00000389817.7:c.3456C>T	ENSP00000374467.3:p.Ala1152=
ENST00000524561.1:n.588C>T
ENST00000527905.5:c.*332C>T	ENSP00000431653.1:n.*332C>T
NM_000352.4:c.3456C>T	NP_000343.2:p.Ala1152=
NM_001287174.1:c.3459C>T	NP_001274103.1:p.Ala1153=
XM_011520331.1:c.3456C>T	XP_011518633.1:p.Ala1152=
XM_011520332.1:c.3459C>T	XP_011518634.1:p.Ala1153=
XM_011520333.1:c.1956C>T	XP_011518635.1:p.Ala652=
XR_930890.1:n.3522C>T
XR_930892.1:n.3422C>T
XR_930893.1:n.3419C>T
NM_001351295.1:c.3522C>T	NP_001338224.1:p.Ala1174=
NM_001351296.1:c.3456C>T	NP_001338225.1:p.Ala1152=
NM_001351297.1:c.3453C>T	NP_001338226.1:p.Ala1151=
NR_147094.1:n.3605C>T
XM_017018197.2:c.3525C>T	XP_016873686.1:p.Ala1175=
XM_017018199.1:c.3522C>T	XP_016873688.1:p.Ala1174=
XM_017018201.2:c.3525C>T	XP_016873690.1:p.Ala1175=
XM_017018202.1:c.2022C>T	XP_016873691.1:p.Ala674=
XM_017018204.1:c.1413C>T	XP_016873693.1:p.Ala471=
XM_024448668.1:c.1824C>T	XP_024304436.1:p.Ala608=
XR_001747945.2:n.3597C>T
XR_001747946.2:n.3528C>T
XR_002957189.1:n.3677C>T
NM_000352.6:c.3456C>T MANE Select	NP_000343.2:p.Ala1152=
NM_001287174.2:c.3459C>T	NP_001274103.1:p.Ala1153=
NM_001351295.2:c.3522C>T	NP_001338224.1:p.Ala1174=
NM_001351296.2:c.3456C>T	NP_001338225.1:p.Ala1152=
NM_001351297.2:c.3453C>T	NP_001338226.1:p.Ala1151=
NR_147094.2:n.3605C>T
NM_001287174.3:c.3459C>T	NP_001274103.1:p.Ala1153=