Canonical Allele Identifier: CA5902873

Gene: ABCC8

Linked Data

• dbSNP Id: rs144348011
• ExAC: 11:17428191 G / A
• gnomAD v2: 11-17428191-G-A
• gnomAD v4: 11-17406644-G-A
• MyVariant Identifiers: chr11:g.17428191G>A (hg19) ; chr11:g.17406644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406644G>A , CM000673.2:g.17406644G>A	GRCh38
NC_000011.9:g.17428191G>A , CM000673.1:g.17428191G>A	GRCh37
NC_000011.8:g.17384767G>A	NCBI36
NG_008867.1:g.75259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2876C>T
ENST00000529967.6:n.1646C>T
ENST00000532220.2:n.1039C>T
ENST00000642611.2:n.3376C>T
ENST00000645004.2:n.806C>T
ENST00000682051.1:n.3323C>T
ENST00000682110.1:n.3376C>T
ENST00000682140.1:c.3304C>T	ENSP00000507829.1:p.Arg1102Trp
ENST00000682185.1:n.4612C>T
ENST00000682204.1:c.*1445C>T	ENSP00000507094.1:n.*1445C>T
ENST00000682215.1:n.3373C>T
ENST00000682288.1:c.*1738C>T	ENSP00000507506.1:n.*1738C>T
ENST00000682442.1:n.3596C>T
ENST00000682528.1:n.3453C>T
ENST00000682673.1:n.3320C>T
ENST00000682805.1:n.3373C>T
ENST00000682965.1:c.3304C>T	ENSP00000508229.1:p.Arg1102Trp
ENST00000683093.1:n.3475C>T
ENST00000683136.1:c.3304C>T	ENSP00000507768.1:p.Arg1102Trp
ENST00000683153.1:n.3532C>T
ENST00000683365.1:n.3478C>T
ENST00000683377.1:n.3376C>T
ENST00000683456.1:c.*444C>T	ENSP00000508318.1:n.*444C>T
ENST00000683522.1:n.3376C>T
ENST00000683562.1:c.*1476C>T	ENSP00000508265.1:n.*1476C>T
ENST00000683693.1:n.3453C>T
ENST00000683725.1:c.3307C>T	ENSP00000507496.1:p.Arg1103Trp
ENST00000684010.1:n.3371C>T
ENST00000684157.1:n.3376C>T
ENST00000684253.1:n.3279C>T
ENST00000684288.1:c.*1479C>T	ENSP00000507143.1:n.*1479C>T
ENST00000684313.1:n.2808C>T
ENST00000684332.1:n.3449C>T
ENST00000684371.1:n.3482C>T
ENST00000684404.1:n.3419C>T
ENST00000684442.1:n.3376C>T
ENST00000684555.1:c.*1519C>T	ENSP00000507705.1:n.*1519C>T
ENST00000684571.1:c.3148C>T	ENSP00000506935.1:p.Arg1050Trp
ENST00000684593.1:c.*3012C>T	ENSP00000507005.1:n.*3012C>T
ENST00000684711.1:c.*1703C>T	ENSP00000506841.1:n.*1703C>T
ENST00000302539.9:c.3310C>T	ENSP00000303960.4:p.Arg1104Trp
ENST00000389817.8:c.3307C>T MANE Select	ENSP00000374467.4:p.Arg1103Trp
ENST00000642271.1:c.3304C>T	ENSP00000493749.1:p.Arg1102Trp
ENST00000642579.1:c.1391C>T
ENST00000642611.1:n.3261C>T
ENST00000642902.1:c.3089C>T
ENST00000643260.1:c.3307C>T	ENSP00000494450.1:p.Arg1103Trp
ENST00000643562.1:c.*1283C>T	ENSP00000496124.1:n.*1283C>T
ENST00000643925.1:c.1431C>T
ENST00000644447.1:c.1663C>T	ENSP00000496282.1:p.Arg555Trp
ENST00000644484.1:c.*1562C>T	ENSP00000493558.1:n.*1562C>T
ENST00000644542.1:c.*3111C>T	ENSP00000495532.1:n.*3111C>T
ENST00000644675.1:c.*1479C>T	ENSP00000494567.1:n.*1479C>T
ENST00000644757.1:c.*1592C>T	ENSP00000495085.1:n.*1592C>T
ENST00000644772.1:c.3373C>T	ENSP00000494321.1:p.Arg1125Trp
ENST00000645004.1:n.446C>T
ENST00000645076.1:c.2506C>T
ENST00000645417.1:c.473C>T
ENST00000645744.1:c.*1571C>T	ENSP00000494564.1:n.*1571C>T
ENST00000645760.1:c.3582C>T
ENST00000645884.1:c.*444C>T	ENSP00000495516.1:n.*444C>T
ENST00000646003.1:c.*1263C>T	ENSP00000495259.1:n.*1263C>T
ENST00000646207.1:c.*1774C>T	ENSP00000495025.1:n.*1774C>T
ENST00000646276.1:c.*1580C>T	ENSP00000496070.1:n.*1580C>T
ENST00000646592.1:c.2613C>T
ENST00000646902.1:c.3304C>T	ENSP00000494101.1:p.Arg1102Trp
ENST00000646993.1:c.*1703C>T	ENSP00000493720.1:n.*1703C>T
ENST00000647013.1:c.3313C>T	ENSP00000496741.1:n.3313C>T
ENST00000647015.1:c.3058C>T	ENSP00000495389.1:p.Arg1020Trp
ENST00000647086.1:c.*3037C>T	ENSP00000493677.1:n.*3037C>T
ENST00000647158.1:c.*1448C>T	ENSP00000495744.1:n.*1448C>T
ENST00000302539.8:c.3310C>T	ENSP00000303960.4:p.Arg1104Trp
ENST00000389817.7:c.3307C>T	ENSP00000374467.3:p.Arg1103Trp
ENST00000524561.1:n.439C>T
ENST00000527905.5:c.*183C>T	ENSP00000431653.1:n.*183C>T
NM_000352.4:c.3307C>T	NP_000343.2:p.Arg1103Trp
NM_001287174.1:c.3310C>T	NP_001274103.1:p.Arg1104Trp
XM_011520331.1:c.3307C>T	XP_011518633.1:p.Arg1103Trp
XM_011520332.1:c.3310C>T	XP_011518634.1:p.Arg1104Trp
XM_011520333.1:c.1807C>T	XP_011518635.1:p.Arg603Trp
XR_930890.1:n.3373C>T
XR_930891.1:n.3373C>T
XR_930892.1:n.3273C>T
XR_930893.1:n.3270C>T
NM_001351295.1:c.3373C>T	NP_001338224.1:p.Arg1125Trp
NM_001351296.1:c.3307C>T	NP_001338225.1:p.Arg1103Trp
NM_001351297.1:c.3304C>T	NP_001338226.1:p.Arg1102Trp
NR_147094.1:n.3456C>T
XM_017018197.2:c.3376C>T	XP_016873686.1:p.Arg1126Trp
XM_017018199.1:c.3373C>T	XP_016873688.1:p.Arg1125Trp
XM_017018201.2:c.3376C>T	XP_016873690.1:p.Arg1126Trp
XM_017018202.1:c.1873C>T	XP_016873691.1:p.Arg625Trp
XM_017018204.1:c.1264C>T	XP_016873693.1:p.Arg422Trp
XM_024448668.1:c.1675C>T	XP_024304436.1:p.Arg559Trp
XR_001747945.2:n.3448C>T
XR_001747946.2:n.3379C>T
XR_002957189.1:n.3528C>T
NM_000352.6:c.3307C>T MANE Select	NP_000343.2:p.Arg1103Trp
NM_001287174.2:c.3310C>T	NP_001274103.1:p.Arg1104Trp
NM_001351295.2:c.3373C>T	NP_001338224.1:p.Arg1125Trp
NM_001351296.2:c.3307C>T	NP_001338225.1:p.Arg1103Trp
NM_001351297.2:c.3304C>T	NP_001338226.1:p.Arg1102Trp
NR_147094.2:n.3456C>T
NM_001287174.3:c.3310C>T	NP_001274103.1:p.Arg1104Trp