Canonical Allele Identifier: CA379799705

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404668-T-C
• MyVariant Identifiers: chr11:g.17426215T>C (hg19) ; chr11:g.17404668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404668T>C , CM000673.2:g.17404668T>C	GRCh38
NC_000011.9:g.17426215T>C , CM000673.1:g.17426215T>C	GRCh37
NC_000011.8:g.17382791T>C	NCBI36
NG_008867.1:g.77235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2970A>G
ENST00000529967.6:n.1740A>G
ENST00000532220.2:n.1133A>G
ENST00000642611.2:n.3470A>G
ENST00000645004.2:n.900A>G
ENST00000682051.1:n.3417A>G
ENST00000682110.1:n.3470A>G
ENST00000682140.1:c.3398A>G	ENSP00000507829.1:p.His1133Arg
ENST00000682185.1:n.4706A>G
ENST00000682204.1:c.*1539A>G	ENSP00000507094.1:n.*1539A>G
ENST00000682215.1:n.3467A>G
ENST00000682288.1:c.*1832A>G	ENSP00000507506.1:n.*1832A>G
ENST00000682442.1:n.3690A>G
ENST00000682528.1:n.3547A>G
ENST00000682673.1:n.3414A>G
ENST00000682805.1:n.3467A>G
ENST00000682965.1:c.3396+826A>G	ENSP00000508229.1:n.3396+826A>G
ENST00000683093.1:n.3569A>G
ENST00000683136.1:c.3398A>G	ENSP00000507768.1:p.His1133Arg
ENST00000683153.1:n.3626A>G
ENST00000683365.1:n.3572A>G
ENST00000683377.1:n.3470A>G
ENST00000683456.1:c.*538A>G	ENSP00000508318.1:n.*538A>G
ENST00000683522.1:n.3470A>G
ENST00000683562.1:c.*1570A>G	ENSP00000508265.1:n.*1570A>G
ENST00000683693.1:n.3547A>G
ENST00000683725.1:c.3401A>G	ENSP00000507496.1:p.His1134Arg
ENST00000684010.1:n.3465A>G
ENST00000684157.1:n.3470A>G
ENST00000684253.1:n.3373A>G
ENST00000684288.1:c.*1573A>G	ENSP00000507143.1:n.*1573A>G
ENST00000684313.1:n.2902A>G
ENST00000684332.1:n.3543A>G
ENST00000684371.1:n.3576A>G
ENST00000684404.1:n.3513A>G
ENST00000684442.1:n.3470A>G
ENST00000684555.1:c.*1613A>G	ENSP00000507705.1:n.*1613A>G
ENST00000684571.1:c.3242A>G	ENSP00000506935.1:p.His1081Arg
ENST00000684593.1:c.*3106A>G	ENSP00000507005.1:n.*3106A>G
ENST00000684711.1:c.*1797A>G	ENSP00000506841.1:n.*1797A>G
ENST00000302539.9:c.3404A>G	ENSP00000303960.4:p.His1135Arg
ENST00000389817.8:c.3401A>G MANE Select	ENSP00000374467.4:p.His1134Arg
ENST00000642271.1:c.3398A>G	ENSP00000493749.1:p.His1133Arg
ENST00000642579.1:c.1485A>G
ENST00000642611.1:n.3355A>G
ENST00000642902.1:c.3183A>G
ENST00000643260.1:c.3401A>G	ENSP00000494450.1:p.His1134Arg
ENST00000643562.1:c.*1377A>G	ENSP00000496124.1:n.*1377A>G
ENST00000643925.1:c.1525A>G
ENST00000644447.1:c.1757A>G	ENSP00000496282.1:p.His586Arg
ENST00000644484.1:c.*1656A>G	ENSP00000493558.1:n.*1656A>G
ENST00000644675.1:c.*1573A>G	ENSP00000494567.1:n.*1573A>G
ENST00000644757.1:c.*1686A>G	ENSP00000495085.1:n.*1686A>G
ENST00000644772.1:c.3467A>G	ENSP00000494321.1:p.His1156Arg
ENST00000645004.1:n.540A>G
ENST00000645076.1:c.2600A>G
ENST00000645417.1:c.567A>G
ENST00000645744.1:c.*1665A>G	ENSP00000494564.1:n.*1665A>G
ENST00000645760.1:c.3676A>G
ENST00000645884.1:c.*538A>G	ENSP00000495516.1:n.*538A>G
ENST00000646003.1:c.*1357A>G	ENSP00000495259.1:n.*1357A>G
ENST00000646207.1:c.*1868A>G	ENSP00000495025.1:n.*1868A>G
ENST00000646276.1:c.*1674A>G	ENSP00000496070.1:n.*1674A>G
ENST00000646592.1:c.2707A>G
ENST00000646902.1:c.3398A>G	ENSP00000494101.1:p.His1133Arg
ENST00000646993.1:c.*1797A>G	ENSP00000493720.1:n.*1797A>G
ENST00000647013.1:c.3407A>G	ENSP00000496741.1:n.3407A>G
ENST00000647015.1:c.3152A>G	ENSP00000495389.1:p.His1051Arg
ENST00000647086.1:c.*3131A>G	ENSP00000493677.1:n.*3131A>G
ENST00000647158.1:c.*1542A>G	ENSP00000495744.1:n.*1542A>G
ENST00000302539.8:c.3404A>G	ENSP00000303960.4:p.His1135Arg
ENST00000389817.7:c.3401A>G	ENSP00000374467.3:p.His1134Arg
ENST00000524561.1:n.533A>G
ENST00000527905.5:c.*277A>G	ENSP00000431653.1:n.*277A>G
NM_000352.4:c.3401A>G	NP_000343.2:p.His1134Arg
NM_001287174.1:c.3404A>G	NP_001274103.1:p.His1135Arg
XM_011520331.1:c.3401A>G	XP_011518633.1:p.His1134Arg
XM_011520332.1:c.3404A>G	XP_011518634.1:p.His1135Arg
XM_011520333.1:c.1901A>G	XP_011518635.1:p.His634Arg
XR_930890.1:n.3467A>G
XR_930891.1:n.3468A>G
XR_930892.1:n.3367A>G
XR_930893.1:n.3364A>G
NM_001351295.1:c.3467A>G	NP_001338224.1:p.His1156Arg
NM_001351296.1:c.3401A>G	NP_001338225.1:p.His1134Arg
NM_001351297.1:c.3398A>G	NP_001338226.1:p.His1133Arg
NR_147094.1:n.3550A>G
XM_017018197.2:c.3470A>G	XP_016873686.1:p.His1157Arg
XM_017018199.1:c.3467A>G	XP_016873688.1:p.His1156Arg
XM_017018201.2:c.3470A>G	XP_016873690.1:p.His1157Arg
XM_017018202.1:c.1967A>G	XP_016873691.1:p.His656Arg
XM_017018204.1:c.1358A>G	XP_016873693.1:p.His453Arg
XM_024448668.1:c.1769A>G	XP_024304436.1:p.His590Arg
XR_001747945.2:n.3542A>G
XR_001747946.2:n.3473A>G
XR_002957189.1:n.3622A>G
NM_000352.6:c.3401A>G MANE Select	NP_000343.2:p.His1134Arg
NM_001287174.2:c.3404A>G	NP_001274103.1:p.His1135Arg
NM_001351295.2:c.3467A>G	NP_001338224.1:p.His1156Arg
NM_001351296.2:c.3401A>G	NP_001338225.1:p.His1134Arg
NM_001351297.2:c.3398A>G	NP_001338226.1:p.His1133Arg
NR_147094.2:n.3550A>G
NM_001287174.3:c.3404A>G	NP_001274103.1:p.His1135Arg