Canonical Allele Identifier: CA379804071

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428610G>T (hg19) ; chr11:g.17407063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407063G>T , CM000673.2:g.17407063G>T	GRCh38
NC_000011.9:g.17428610G>T , CM000673.1:g.17428610G>T	GRCh37
NC_000011.8:g.17385186G>T	NCBI36
NG_008867.1:g.74840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2556C>A
ENST00000529967.6:n.1326C>A
ENST00000532220.2:n.719C>A
ENST00000642611.2:n.3056C>A
ENST00000645004.2:n.486C>A
ENST00000682051.1:n.3003C>A
ENST00000682110.1:n.3056C>A
ENST00000682140.1:c.2984C>A	ENSP00000507829.1:p.Pro995Gln
ENST00000682185.1:n.4292C>A
ENST00000682204.1:c.*1125C>A	ENSP00000507094.1:n.*1125C>A
ENST00000682215.1:n.3053C>A
ENST00000682288.1:c.*1418C>A	ENSP00000507506.1:n.*1418C>A
ENST00000682442.1:n.3177C>A
ENST00000682528.1:n.3133C>A
ENST00000682673.1:n.3000C>A
ENST00000682805.1:n.3053C>A
ENST00000682965.1:c.2984C>A	ENSP00000508229.1:p.Pro995Gln
ENST00000683093.1:n.3155C>A
ENST00000683136.1:c.2984C>A	ENSP00000507768.1:p.Pro995Gln
ENST00000683153.1:n.3212C>A
ENST00000683365.1:n.3158C>A
ENST00000683377.1:n.3056C>A
ENST00000683456.1:c.*124C>A	ENSP00000508318.1:n.*124C>A
ENST00000683522.1:n.3056C>A
ENST00000683562.1:c.*1156C>A	ENSP00000508265.1:n.*1156C>A
ENST00000683693.1:n.3133C>A
ENST00000683725.1:c.2987C>A	ENSP00000507496.1:p.Pro996Gln
ENST00000684010.1:n.3051C>A
ENST00000684157.1:n.3056C>A
ENST00000684253.1:n.2959C>A
ENST00000684288.1:c.*1159C>A	ENSP00000507143.1:n.*1159C>A
ENST00000684313.1:n.2488C>A
ENST00000684332.1:n.3129C>A
ENST00000684371.1:n.3162C>A
ENST00000684404.1:n.3099C>A
ENST00000684442.1:n.3056C>A
ENST00000684555.1:c.*1199C>A	ENSP00000507705.1:n.*1199C>A
ENST00000684571.1:c.2828C>A	ENSP00000506935.1:p.Pro943Gln
ENST00000684593.1:c.*2692C>A	ENSP00000507005.1:n.*2692C>A
ENST00000684711.1:c.*1383C>A	ENSP00000506841.1:n.*1383C>A
ENST00000302539.9:c.2990C>A	ENSP00000303960.4:p.Pro997Gln
ENST00000389817.8:c.2987C>A MANE Select	ENSP00000374467.4:p.Pro996Gln
ENST00000642271.1:c.2984C>A	ENSP00000493749.1:p.Pro995Gln
ENST00000642579.1:c.1071C>A
ENST00000642611.1:n.2941C>A
ENST00000642902.1:c.2769C>A
ENST00000643260.1:c.2987C>A	ENSP00000494450.1:p.Pro996Gln
ENST00000643562.1:c.*963C>A	ENSP00000496124.1:n.*963C>A
ENST00000643925.1:c.1111C>A
ENST00000644447.1:c.1343C>A	ENSP00000496282.1:p.Pro448Gln
ENST00000644484.1:c.*1242C>A	ENSP00000493558.1:n.*1242C>A
ENST00000644542.1:c.*2692C>A	ENSP00000495532.1:n.*2692C>A
ENST00000644675.1:c.*1159C>A	ENSP00000494567.1:n.*1159C>A
ENST00000644757.1:c.*1272C>A	ENSP00000495085.1:n.*1272C>A
ENST00000644772.1:c.3053C>A	ENSP00000494321.1:p.Pro1018Gln
ENST00000645004.1:n.126C>A
ENST00000645076.1:c.2186C>A
ENST00000645417.1:c.153C>A
ENST00000645744.1:c.*1251C>A	ENSP00000494564.1:n.*1251C>A
ENST00000645760.1:c.3262C>A
ENST00000645884.1:c.*124C>A	ENSP00000495516.1:n.*124C>A
ENST00000646003.1:c.*943C>A	ENSP00000495259.1:n.*943C>A
ENST00000646207.1:c.*1454C>A	ENSP00000495025.1:n.*1454C>A
ENST00000646276.1:c.*1260C>A	ENSP00000496070.1:n.*1260C>A
ENST00000646592.1:c.2293C>A
ENST00000646902.1:c.2984C>A	ENSP00000494101.1:p.Pro995Gln
ENST00000646993.1:c.*1383C>A	ENSP00000493720.1:n.*1383C>A
ENST00000647013.1:c.2993C>A	ENSP00000496741.1:n.2993C>A
ENST00000647015.1:c.2738C>A	ENSP00000495389.1:p.Pro913Gln
ENST00000647086.1:c.*2717C>A	ENSP00000493677.1:n.*2717C>A
ENST00000647158.1:c.*1128C>A	ENSP00000495744.1:n.*1128C>A
ENST00000302539.8:c.2990C>A	ENSP00000303960.4:p.Pro997Gln
ENST00000389817.7:c.2987C>A	ENSP00000374467.3:p.Pro996Gln
ENST00000524561.1:n.119C>A
ENST00000526921.5:n.671C>A
ENST00000527905.5:c.2857C>A	ENSP00000431653.1:p.His953Asn
ENST00000529967.5:n.656C>A
NM_000352.4:c.2987C>A	NP_000343.2:p.Pro996Gln
NM_001287174.1:c.2990C>A	NP_001274103.1:p.Pro997Gln
XM_011520331.1:c.2987C>A	XP_011518633.1:p.Pro996Gln
XM_011520332.1:c.2990C>A	XP_011518634.1:p.Pro997Gln
XM_011520333.1:c.1487C>A	XP_011518635.1:p.Pro496Gln
XR_930890.1:n.3053C>A
XR_930891.1:n.3053C>A
XR_930892.1:n.2953C>A
XR_930893.1:n.2950C>A
NM_001351295.1:c.3053C>A	NP_001338224.1:p.Pro1018Gln
NM_001351296.1:c.2987C>A	NP_001338225.1:p.Pro996Gln
NM_001351297.1:c.2984C>A	NP_001338226.1:p.Pro995Gln
NR_147094.1:n.3136C>A
XM_017018197.2:c.3056C>A	XP_016873686.1:p.Pro1019Gln
XM_017018199.1:c.3053C>A	XP_016873688.1:p.Pro1018Gln
XM_017018201.2:c.3056C>A	XP_016873690.1:p.Pro1019Gln
XM_017018202.1:c.1553C>A	XP_016873691.1:p.Pro518Gln
XM_017018204.1:c.944C>A	XP_016873693.1:p.Pro315Gln
XM_024448668.1:c.1355C>A	XP_024304436.1:p.Pro452Gln
XR_001747945.2:n.3128C>A
XR_001747946.2:n.3059C>A
XR_002957189.1:n.3208C>A
NM_000352.6:c.2987C>A MANE Select	NP_000343.2:p.Pro996Gln
NM_001287174.2:c.2990C>A	NP_001274103.1:p.Pro997Gln
NM_001351295.2:c.3053C>A	NP_001338224.1:p.Pro1018Gln
NM_001351296.2:c.2987C>A	NP_001338225.1:p.Pro996Gln
NM_001351297.2:c.2984C>A	NP_001338226.1:p.Pro995Gln
NR_147094.2:n.3136C>A
NM_001287174.3:c.2990C>A	NP_001274103.1:p.Pro997Gln