Canonical Allele Identifier: CA473300236

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428204G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406657G>C , CM000673.2:g.17406657G>C	GRCh38
NC_000011.9:g.17428204G>C , CM000673.1:g.17428204G>C	GRCh37
NC_000011.8:g.17384780G>C	NCBI36
NG_008867.1:g.75246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2863C>G
ENST00000529967.6:n.1633C>G
ENST00000532220.2:n.1026C>G
ENST00000642611.2:n.3363C>G
ENST00000645004.2:n.793C>G
ENST00000682051.1:n.3310C>G
ENST00000682110.1:n.3363C>G
ENST00000682140.1:c.3291C>G	ENSP00000507829.1:p.Arg1097=
ENST00000682185.1:n.4599C>G
ENST00000682204.1:c.*1432C>G	ENSP00000507094.1:n.*1432C>G
ENST00000682215.1:n.3360C>G
ENST00000682288.1:c.*1725C>G	ENSP00000507506.1:n.*1725C>G
ENST00000682442.1:n.3583C>G
ENST00000682528.1:n.3440C>G
ENST00000682673.1:n.3307C>G
ENST00000682805.1:n.3360C>G
ENST00000682965.1:c.3291C>G	ENSP00000508229.1:p.Arg1097=
ENST00000683093.1:n.3462C>G
ENST00000683136.1:c.3291C>G	ENSP00000507768.1:p.Arg1097=
ENST00000683153.1:n.3519C>G
ENST00000683365.1:n.3465C>G
ENST00000683377.1:n.3363C>G
ENST00000683456.1:c.*431C>G	ENSP00000508318.1:n.*431C>G
ENST00000683522.1:n.3363C>G
ENST00000683562.1:c.*1463C>G	ENSP00000508265.1:n.*1463C>G
ENST00000683693.1:n.3440C>G
ENST00000683725.1:c.3294C>G	ENSP00000507496.1:p.Arg1098=
ENST00000684010.1:n.3358C>G
ENST00000684157.1:n.3363C>G
ENST00000684253.1:n.3266C>G
ENST00000684288.1:c.*1466C>G	ENSP00000507143.1:n.*1466C>G
ENST00000684313.1:n.2795C>G
ENST00000684332.1:n.3436C>G
ENST00000684371.1:n.3469C>G
ENST00000684404.1:n.3406C>G
ENST00000684442.1:n.3363C>G
ENST00000684555.1:c.*1506C>G	ENSP00000507705.1:n.*1506C>G
ENST00000684571.1:c.3135C>G	ENSP00000506935.1:p.Arg1045=
ENST00000684593.1:c.*2999C>G	ENSP00000507005.1:n.*2999C>G
ENST00000684711.1:c.*1690C>G	ENSP00000506841.1:n.*1690C>G
ENST00000302539.9:c.3297C>G	ENSP00000303960.4:p.Arg1099=
ENST00000389817.8:c.3294C>G MANE Select	ENSP00000374467.4:p.Arg1098=
ENST00000642271.1:c.3291C>G	ENSP00000493749.1:p.Arg1097=
ENST00000642579.1:c.1378C>G
ENST00000642611.1:n.3248C>G
ENST00000642902.1:c.3076C>G
ENST00000643260.1:c.3294C>G	ENSP00000494450.1:p.Arg1098=
ENST00000643562.1:c.*1270C>G	ENSP00000496124.1:n.*1270C>G
ENST00000643925.1:c.1418C>G
ENST00000644447.1:c.1650C>G	ENSP00000496282.1:p.Arg550=
ENST00000644484.1:c.*1549C>G	ENSP00000493558.1:n.*1549C>G
ENST00000644542.1:c.*3098C>G	ENSP00000495532.1:n.*3098C>G
ENST00000644675.1:c.*1466C>G	ENSP00000494567.1:n.*1466C>G
ENST00000644757.1:c.*1579C>G	ENSP00000495085.1:n.*1579C>G
ENST00000644772.1:c.3360C>G	ENSP00000494321.1:p.Arg1120=
ENST00000645004.1:n.433C>G
ENST00000645076.1:c.2493C>G
ENST00000645417.1:c.460C>G
ENST00000645744.1:c.*1558C>G	ENSP00000494564.1:n.*1558C>G
ENST00000645760.1:c.3569C>G
ENST00000645884.1:c.*431C>G	ENSP00000495516.1:n.*431C>G
ENST00000646003.1:c.*1250C>G	ENSP00000495259.1:n.*1250C>G
ENST00000646207.1:c.*1761C>G	ENSP00000495025.1:n.*1761C>G
ENST00000646276.1:c.*1567C>G	ENSP00000496070.1:n.*1567C>G
ENST00000646592.1:c.2600C>G
ENST00000646902.1:c.3291C>G	ENSP00000494101.1:p.Arg1097=
ENST00000646993.1:c.*1690C>G	ENSP00000493720.1:n.*1690C>G
ENST00000647013.1:c.3300C>G	ENSP00000496741.1:n.3300C>G
ENST00000647015.1:c.3045C>G	ENSP00000495389.1:p.Arg1015=
ENST00000647086.1:c.*3024C>G	ENSP00000493677.1:n.*3024C>G
ENST00000647158.1:c.*1435C>G	ENSP00000495744.1:n.*1435C>G
ENST00000302539.8:c.3297C>G	ENSP00000303960.4:p.Arg1099=
ENST00000389817.7:c.3294C>G	ENSP00000374467.3:p.Arg1098=
ENST00000524561.1:n.426C>G
ENST00000527905.5:c.*170C>G	ENSP00000431653.1:n.*170C>G
NM_000352.4:c.3294C>G	NP_000343.2:p.Arg1098=
NM_001287174.1:c.3297C>G	NP_001274103.1:p.Arg1099=
XM_011520331.1:c.3294C>G	XP_011518633.1:p.Arg1098=
XM_011520332.1:c.3297C>G	XP_011518634.1:p.Arg1099=
XM_011520333.1:c.1794C>G	XP_011518635.1:p.Arg598=
XR_930890.1:n.3360C>G
XR_930891.1:n.3360C>G
XR_930892.1:n.3260C>G
XR_930893.1:n.3257C>G
NM_001351295.1:c.3360C>G	NP_001338224.1:p.Arg1120=
NM_001351296.1:c.3294C>G	NP_001338225.1:p.Arg1098=
NM_001351297.1:c.3291C>G	NP_001338226.1:p.Arg1097=
NR_147094.1:n.3443C>G
XM_017018197.2:c.3363C>G	XP_016873686.1:p.Arg1121=
XM_017018199.1:c.3360C>G	XP_016873688.1:p.Arg1120=
XM_017018201.2:c.3363C>G	XP_016873690.1:p.Arg1121=
XM_017018202.1:c.1860C>G	XP_016873691.1:p.Arg620=
XM_017018204.1:c.1251C>G	XP_016873693.1:p.Arg417=
XM_024448668.1:c.1662C>G	XP_024304436.1:p.Arg554=
XR_001747945.2:n.3435C>G
XR_001747946.2:n.3366C>G
XR_002957189.1:n.3515C>G
NM_000352.6:c.3294C>G MANE Select	NP_000343.2:p.Arg1098=
NM_001287174.2:c.3297C>G	NP_001274103.1:p.Arg1099=
NM_001351295.2:c.3360C>G	NP_001338224.1:p.Arg1120=
NM_001351296.2:c.3294C>G	NP_001338225.1:p.Arg1098=
NM_001351297.2:c.3291C>G	NP_001338226.1:p.Arg1097=
NR_147094.2:n.3443C>G
NM_001287174.3:c.3297C>G	NP_001274103.1:p.Arg1099=