Canonical Allele Identifier: CA473516056

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2090823
• ClinVar RCV Id: RCV003013298
• dbSNP Id: rs1374545314
• gnomAD v2: 11-17428438-G-A
• gnomAD v3: 11-17406891-G-A
• gnomAD v4: 11-17406891-G-A
• MyVariant Identifiers: chr11:g.17428438G>A (hg19) ; chr11:g.17406891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406891G>A , CM000673.2:g.17406891G>A	GRCh38
NC_000011.9:g.17428438G>A , CM000673.1:g.17428438G>A	GRCh37
NC_000011.8:g.17385014G>A	NCBI36
NG_008867.1:g.75012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2728C>T
ENST00000529967.6:n.1498C>T
ENST00000532220.2:n.891C>T
ENST00000642611.2:n.3228C>T
ENST00000645004.2:n.658C>T
ENST00000682051.1:n.3175C>T
ENST00000682110.1:n.3228C>T
ENST00000682140.1:c.3156C>T	ENSP00000507829.1:p.Ser1052=
ENST00000682185.1:n.4464C>T
ENST00000682204.1:c.*1297C>T	ENSP00000507094.1:n.*1297C>T
ENST00000682215.1:n.3225C>T
ENST00000682288.1:c.*1590C>T	ENSP00000507506.1:n.*1590C>T
ENST00000682442.1:n.3349C>T
ENST00000682528.1:n.3305C>T
ENST00000682673.1:n.3172C>T
ENST00000682805.1:n.3225C>T
ENST00000682965.1:c.3156C>T	ENSP00000508229.1:p.Ser1052=
ENST00000683093.1:n.3327C>T
ENST00000683136.1:c.3156C>T	ENSP00000507768.1:p.Ser1052=
ENST00000683153.1:n.3384C>T
ENST00000683365.1:n.3330C>T
ENST00000683377.1:n.3228C>T
ENST00000683456.1:c.*296C>T	ENSP00000508318.1:n.*296C>T
ENST00000683522.1:n.3228C>T
ENST00000683562.1:c.*1328C>T	ENSP00000508265.1:n.*1328C>T
ENST00000683693.1:n.3305C>T
ENST00000683725.1:c.3159C>T	ENSP00000507496.1:p.Ser1053=
ENST00000684010.1:n.3223C>T
ENST00000684157.1:n.3228C>T
ENST00000684253.1:n.3131C>T
ENST00000684288.1:c.*1331C>T	ENSP00000507143.1:n.*1331C>T
ENST00000684313.1:n.2660C>T
ENST00000684332.1:n.3301C>T
ENST00000684371.1:n.3334C>T
ENST00000684404.1:n.3271C>T
ENST00000684442.1:n.3228C>T
ENST00000684555.1:c.*1371C>T	ENSP00000507705.1:n.*1371C>T
ENST00000684571.1:c.3000C>T	ENSP00000506935.1:p.Ser1000=
ENST00000684593.1:c.*2864C>T	ENSP00000507005.1:n.*2864C>T
ENST00000684711.1:c.*1555C>T	ENSP00000506841.1:n.*1555C>T
ENST00000302539.9:c.3162C>T	ENSP00000303960.4:p.Ser1054=
ENST00000389817.8:c.3159C>T MANE Select	ENSP00000374467.4:p.Ser1053=
ENST00000642271.1:c.3156C>T	ENSP00000493749.1:p.Ser1052=
ENST00000642579.1:c.1243C>T
ENST00000642611.1:n.3113C>T
ENST00000642902.1:c.2941C>T
ENST00000643260.1:c.3159C>T	ENSP00000494450.1:p.Ser1053=
ENST00000643562.1:c.*1135C>T	ENSP00000496124.1:n.*1135C>T
ENST00000643925.1:c.1283C>T
ENST00000644447.1:c.1515C>T	ENSP00000496282.1:p.Ser505=
ENST00000644484.1:c.*1414C>T	ENSP00000493558.1:n.*1414C>T
ENST00000644542.1:c.*2864C>T	ENSP00000495532.1:n.*2864C>T
ENST00000644675.1:c.*1331C>T	ENSP00000494567.1:n.*1331C>T
ENST00000644757.1:c.*1444C>T	ENSP00000495085.1:n.*1444C>T
ENST00000644772.1:c.3225C>T	ENSP00000494321.1:p.Ser1075=
ENST00000645004.1:n.298C>T
ENST00000645076.1:c.2358C>T
ENST00000645417.1:c.325C>T
ENST00000645744.1:c.*1423C>T	ENSP00000494564.1:n.*1423C>T
ENST00000645760.1:c.3434C>T
ENST00000645884.1:c.*296C>T	ENSP00000495516.1:n.*296C>T
ENST00000646003.1:c.*1115C>T	ENSP00000495259.1:n.*1115C>T
ENST00000646207.1:c.*1626C>T	ENSP00000495025.1:n.*1626C>T
ENST00000646276.1:c.*1432C>T	ENSP00000496070.1:n.*1432C>T
ENST00000646592.1:c.2465C>T
ENST00000646902.1:c.3156C>T	ENSP00000494101.1:p.Ser1052=
ENST00000646993.1:c.*1555C>T	ENSP00000493720.1:n.*1555C>T
ENST00000647013.1:c.3165C>T	ENSP00000496741.1:n.3165C>T
ENST00000647015.1:c.2910C>T	ENSP00000495389.1:p.Ser970=
ENST00000647086.1:c.*2889C>T	ENSP00000493677.1:n.*2889C>T
ENST00000647158.1:c.*1300C>T	ENSP00000495744.1:n.*1300C>T
ENST00000302539.8:c.3162C>T	ENSP00000303960.4:p.Ser1054=
ENST00000389817.7:c.3159C>T	ENSP00000374467.3:p.Ser1053=
ENST00000524561.1:n.291C>T
ENST00000526921.5:n.843C>T
ENST00000527905.5:c.*35C>T	ENSP00000431653.1:n.*35C>T
ENST00000529967.5:n.828C>T
NM_000352.4:c.3159C>T	NP_000343.2:p.Ser1053=
NM_001287174.1:c.3162C>T	NP_001274103.1:p.Ser1054=
XM_011520331.1:c.3159C>T	XP_011518633.1:p.Ser1053=
XM_011520332.1:c.3162C>T	XP_011518634.1:p.Ser1054=
XM_011520333.1:c.1659C>T	XP_011518635.1:p.Ser553=
XR_930890.1:n.3225C>T
XR_930891.1:n.3225C>T
XR_930892.1:n.3125C>T
XR_930893.1:n.3122C>T
NM_001351295.1:c.3225C>T	NP_001338224.1:p.Ser1075=
NM_001351296.1:c.3159C>T	NP_001338225.1:p.Ser1053=
NM_001351297.1:c.3156C>T	NP_001338226.1:p.Ser1052=
NR_147094.1:n.3308C>T
XM_017018197.2:c.3228C>T	XP_016873686.1:p.Ser1076=
XM_017018199.1:c.3225C>T	XP_016873688.1:p.Ser1075=
XM_017018201.2:c.3228C>T	XP_016873690.1:p.Ser1076=
XM_017018202.1:c.1725C>T	XP_016873691.1:p.Ser575=
XM_017018204.1:c.1116C>T	XP_016873693.1:p.Ser372=
XM_024448668.1:c.1527C>T	XP_024304436.1:p.Ser509=
XR_001747945.2:n.3300C>T
XR_001747946.2:n.3231C>T
XR_002957189.1:n.3380C>T
NM_000352.6:c.3159C>T MANE Select	NP_000343.2:p.Ser1053=
NM_001287174.2:c.3162C>T	NP_001274103.1:p.Ser1054=
NM_001351295.2:c.3225C>T	NP_001338224.1:p.Ser1075=
NM_001351296.2:c.3159C>T	NP_001338225.1:p.Ser1053=
NM_001351297.2:c.3156C>T	NP_001338226.1:p.Ser1052=
NR_147094.2:n.3308C>T
NM_001287174.3:c.3162C>T	NP_001274103.1:p.Ser1054=