Canonical Allele Identifier: CA2740093651

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 3023120
• ClinVar RCV Id: RCV003882306

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393773G>A , CM000673.2:g.17393773G>A	GRCh38
NC_000011.9:g.17415320G>A , CM000673.1:g.17415320G>A	GRCh37
NC_000011.8:g.17371896G>A	NCBI36
NG_008867.1:g.88130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4147-14C>T
ENST00000526037.6:n.481-14C>T
ENST00000528374.2:c.1137-14C>T
ENST00000529967.6:n.2885-14C>T
ENST00000532220.2:n.3779-14C>T
ENST00000642611.2:n.5879-14C>T
ENST00000644057.2:n.1122-14C>T
ENST00000645004.2:n.2045-14C>T
ENST00000682051.1:n.4708-14C>T
ENST00000682110.1:n.4761-14C>T
ENST00000682140.1:c.*332-14C>T	ENSP00000507829.1:n.*332-14C>T
ENST00000682185.1:n.5851-14C>T
ENST00000682204.1:c.*2684-14C>T	ENSP00000507094.1:n.*2684-14C>T
ENST00000682215.1:n.5128-14C>T
ENST00000682288.1:c.*2977-14C>T	ENSP00000507506.1:n.*2977-14C>T
ENST00000682442.1:n.4981-14C>T
ENST00000682528.1:n.4838-14C>T
ENST00000682673.1:n.4705-14C>T
ENST00000682805.1:n.5166-14C>T
ENST00000682965.1:c.*968-14C>T	ENSP00000508229.1:n.*968-14C>T
ENST00000683093.1:n.5741-14C>T
ENST00000683136.1:c.4429-14C>T	ENSP00000507768.1:n.4429-14C>T
ENST00000683153.1:n.4803-14C>T
ENST00000683365.1:n.4863-14C>T
ENST00000683377.1:n.4657-14C>T
ENST00000683456.1:c.*1683-14C>T	ENSP00000508318.1:n.*1683-14C>T
ENST00000683522.1:n.4843-14C>T
ENST00000683562.1:c.*2611-14C>T	ENSP00000508265.1:n.*2611-14C>T
ENST00000683693.1:n.6222-14C>T
ENST00000683725.1:c.*11-14C>T	ENSP00000507496.1:n.*11-14C>T
ENST00000684010.1:n.4756-14C>T
ENST00000684014.1:n.733-14C>T
ENST00000684157.1:n.5746-14C>T
ENST00000684253.1:n.4664-14C>T
ENST00000684288.1:c.*2718-14C>T	ENSP00000507143.1:n.*2718-14C>T
ENST00000684313.1:n.4193-14C>T
ENST00000684332.1:n.4834-14C>T
ENST00000684371.1:n.4867-14C>T
ENST00000684404.1:n.5789-14C>T
ENST00000684442.1:n.4985-14C>T
ENST00000684555.1:c.*2758-14C>T	ENSP00000507705.1:n.*2758-14C>T
ENST00000684571.1:c.4387-14C>T	ENSP00000506935.1:n.4387-14C>T
ENST00000684593.1:c.*4251-14C>T	ENSP00000507005.1:n.*4251-14C>T
ENST00000684711.1:c.*2942-14C>T	ENSP00000506841.1:n.*2942-14C>T
ENST00000302539.9:c.4549-14C>T	ENSP00000303960.4:n.4549-14C>T
ENST00000389817.8:c.4546-14C>T MANE Select	ENSP00000374467.4:n.4546-14C>T
ENST00000642271.1:c.4543-14C>T	ENSP00000493749.1:n.4543-14C>T
ENST00000642579.1:c.2600-14C>T
ENST00000642611.1:n.5764-14C>T
ENST00000642902.1:c.4328-14C>T
ENST00000643260.1:c.4546-14C>T	ENSP00000494450.1:n.4546-14C>T
ENST00000643562.1:c.*2668-14C>T	ENSP00000496124.1:n.*2668-14C>T
ENST00000643925.1:c.3185+493C>T
ENST00000644057.1:n.705-14C>T
ENST00000644484.1:c.*3932-14C>T	ENSP00000493558.1:n.*3932-14C>T
ENST00000644675.1:c.*2718-14C>T	ENSP00000494567.1:n.*2718-14C>T
ENST00000644757.1:c.*3203-793C>T	ENSP00000495085.1:n.*3203-793C>T
ENST00000644772.1:c.4612-14C>T	ENSP00000494321.1:n.4612-14C>T
ENST00000645004.1:n.2239-14C>T
ENST00000645076.1:c.3641-14C>T
ENST00000645417.1:c.1734-14C>T
ENST00000645744.1:c.*4231-14C>T	ENSP00000494564.1:n.*4231-14C>T
ENST00000645760.1:c.4967-14C>T
ENST00000645884.1:c.*1829-14C>T	ENSP00000495516.1:n.*1829-14C>T
ENST00000646003.1:c.*2568-14C>T	ENSP00000495259.1:n.*2568-14C>T
ENST00000646207.1:c.*3383-14C>T	ENSP00000495025.1:n.*3383-14C>T
ENST00000646276.1:c.*3950-14C>T	ENSP00000496070.1:n.*3950-14C>T
ENST00000646592.1:c.3852-14C>T
ENST00000646902.1:c.4513-14C>T	ENSP00000494101.1:n.4513-14C>T
ENST00000646993.1:c.*2984-14C>T	ENSP00000493720.1:n.*2984-14C>T
ENST00000647015.1:c.4297-14C>T	ENSP00000495389.1:n.4297-14C>T
ENST00000647086.1:c.*4132-14C>T	ENSP00000493677.1:n.*4132-14C>T
ENST00000647158.1:c.*2833-14C>T	ENSP00000495744.1:n.*2833-14C>T
ENST00000302539.8:c.4549-14C>T	ENSP00000303960.4:n.4549-14C>T
ENST00000389817.7:c.4546-14C>T	ENSP00000374467.3:n.4546-14C>T
ENST00000525022.1:n.441-14C>T
ENST00000526037.5:n.306-14C>T
ENST00000526168.5:c.334-14C>T
ENST00000531642.5:c.577-14C>T
NM_000352.4:c.4546-14C>T	NP_000343.2:n.4546-14C>T
NM_001287174.1:c.4549-14C>T	NP_001274103.1:n.4549-14C>T
XM_011520331.1:c.4546-14C>T	XP_011518633.1:n.4546-14C>T
XM_011520333.1:c.3046-14C>T	XP_011518635.1:n.3046-14C>T
XR_930890.1:n.4508-14C>T
NM_001351295.1:c.4612-14C>T	NP_001338224.1:n.4612-14C>T
NM_001351296.1:c.4546-14C>T	NP_001338225.1:n.4546-14C>T
NM_001351297.1:c.4543-14C>T	NP_001338226.1:n.4543-14C>T
NR_147094.1:n.4841-14C>T
XM_017018197.2:c.4615-14C>T	XP_016873686.1:n.4615-14C>T
XM_017018199.1:c.4612-14C>T	XP_016873688.1:n.4612-14C>T
XM_017018202.1:c.3112-14C>T	XP_016873691.1:n.3112-14C>T
XM_017018204.1:c.2503-14C>T	XP_016873693.1:n.2503-14C>T
XM_024448668.1:c.2914-14C>T	XP_024304436.1:n.2914-14C>T
XR_001747945.2:n.4583-14C>T
XR_001747946.2:n.4514-14C>T
XR_002957189.1:n.6297-14C>T
NM_000352.6:c.4546-14C>T MANE Select	NP_000343.2:n.4546-14C>T
NM_001287174.2:c.4549-14C>T	NP_001274103.1:n.4549-14C>T
NM_001351295.2:c.4612-14C>T	NP_001338224.1:n.4612-14C>T
NM_001351296.2:c.4546-14C>T	NP_001338225.1:n.4546-14C>T
NM_001351297.2:c.4543-14C>T	NP_001338226.1:n.4543-14C>T
NR_147094.2:n.4841-14C>T
NM_001287174.3:c.4549-14C>T	NP_001274103.1:n.4549-14C>T