Canonical Allele Identifier: CA379809823

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17414611C>T , CM000673.2:g.17414611C>T	GRCh38
NC_000011.9:g.17436158C>T , CM000673.1:g.17436158C>T	GRCh37
NC_000011.8:g.17392734C>T	NCBI36
NG_008867.1:g.67292G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2292-1G>A MANE Select	NP_000343.2:n.2292-1G>A
ENST00000389817.8:c.2292-1G>A MANE Select	ENSP00000374467.4:n.2292-1G>A
NM_000352.4:c.2292-1G>A	NP_000343.2:n.2292-1G>A
NM_001287174.1:c.2295-1G>A	NP_001274103.1:n.2295-1G>A
NM_001287174.2:c.2295-1G>A	NP_001274103.1:n.2295-1G>A
NM_001287174.3:c.2295-1G>A	NP_001274103.1:n.2295-1G>A
NM_001351295.1:c.2358-1G>A	NP_001338224.1:n.2358-1G>A
NM_001351295.2:c.2358-1G>A	NP_001338224.1:n.2358-1G>A
NM_001351296.1:c.2292-1G>A	NP_001338225.1:n.2292-1G>A
NM_001351296.2:c.2292-1G>A	NP_001338225.1:n.2292-1G>A
NM_001351297.1:c.2289-1G>A	NP_001338226.1:n.2289-1G>A
NM_001351297.2:c.2289-1G>A	NP_001338226.1:n.2289-1G>A
NR_147094.1:n.2361-1G>A
NR_147094.2:n.2361-1G>A
ENST00000302539.8:c.2295-1G>A	ENSP00000303960.4:n.2295-1G>A
ENST00000302539.9:c.2295-1G>A	ENSP00000303960.4:n.2295-1G>A
ENST00000389817.7:c.2292-1G>A	ENSP00000374467.3:n.2292-1G>A
ENST00000524561.2:n.1961-1G>A
ENST00000527905.5:c.2262-1G>A	ENSP00000431653.1:n.2262-1G>A
ENST00000529967.6:n.551-1G>A
ENST00000531911.1:n.406-1G>A
ENST00000642271.1:c.2289-1G>A	ENSP00000493749.1:n.2289-1G>A
ENST00000642579.1:c.376-1G>A
ENST00000642611.1:n.2246-1G>A
ENST00000642611.2:n.2361-1G>A
ENST00000642902.1:c.2127-1G>A
ENST00000643260.1:c.2292-1G>A	ENSP00000494450.1:n.2292-1G>A
ENST00000643562.1:c.*268-1G>A	ENSP00000496124.1:n.*268-1G>A
ENST00000643925.1:c.232-1G>A
ENST00000644447.1:c.648-1G>A	ENSP00000496282.1:n.648-1G>A
ENST00000644472.1:c.*653-1G>A	ENSP00000495378.1:n.*653-1G>A
ENST00000644484.1:c.*501-1G>A	ENSP00000493558.1:n.*501-1G>A
ENST00000644542.1:c.*1997-1G>A	ENSP00000495532.1:n.*1997-1G>A
ENST00000644675.1:c.*464-1G>A	ENSP00000494567.1:n.*464-1G>A
ENST00000644757.1:c.*597-1G>A	ENSP00000495085.1:n.*597-1G>A
ENST00000644772.1:c.2358-1G>A	ENSP00000494321.1:n.2358-1G>A
ENST00000645076.1:c.1544-1G>A
ENST00000645744.1:c.*656-1G>A	ENSP00000494564.1:n.*656-1G>A
ENST00000645760.1:c.2567-1G>A
ENST00000645884.1:c.2292-1G>A	ENSP00000495516.1:n.2292-1G>A
ENST00000646003.1:c.*433-1G>A	ENSP00000495259.1:n.*433-1G>A
ENST00000646207.1:c.*656-1G>A	ENSP00000495025.1:n.*656-1G>A
ENST00000646276.1:c.*565-1G>A	ENSP00000496070.1:n.*565-1G>A
ENST00000646592.1:c.1518-1G>A
ENST00000646902.1:c.2289-1G>A	ENSP00000494101.1:n.2289-1G>A
ENST00000646993.1:c.*688-1G>A	ENSP00000493720.1:n.*688-1G>A
ENST00000647013.1:c.2298-1G>A	ENSP00000496741.1:n.2298-1G>A
ENST00000647015.1:c.2043-1G>A	ENSP00000495389.1:n.2043-1G>A
ENST00000647086.1:c.*2022-1G>A	ENSP00000493677.1:n.*2022-1G>A
ENST00000647158.1:c.*433-1G>A	ENSP00000495744.1:n.*433-1G>A
ENST00000682051.1:n.2308-1G>A
ENST00000682110.1:n.2361-1G>A
ENST00000682140.1:c.2289-1G>A	ENSP00000507829.1:n.2289-1G>A
ENST00000682185.1:n.3597-1G>A
ENST00000682204.1:c.*430-1G>A	ENSP00000507094.1:n.*430-1G>A
ENST00000682215.1:n.2358-1G>A
ENST00000682288.1:c.*723-1G>A	ENSP00000507506.1:n.*723-1G>A
ENST00000682442.1:n.2482-1G>A
ENST00000682528.1:n.2358-1G>A
ENST00000682673.1:n.2305-1G>A
ENST00000682805.1:n.2358-1G>A
ENST00000682965.1:c.2289-1G>A	ENSP00000508229.1:n.2289-1G>A
ENST00000683093.1:n.2460-1G>A
ENST00000683136.1:c.2289-1G>A	ENSP00000507768.1:n.2289-1G>A
ENST00000683153.1:n.2517-1G>A
ENST00000683365.1:n.2463-1G>A
ENST00000683377.1:n.2361-1G>A
ENST00000683456.1:c.2292-1G>A	ENSP00000508318.1:n.2292-1G>A
ENST00000683522.1:n.2361-1G>A
ENST00000683562.1:c.*461-1G>A	ENSP00000508265.1:n.*461-1G>A
ENST00000683693.1:n.2358-1G>A
ENST00000683725.1:c.2292-1G>A	ENSP00000507496.1:n.2292-1G>A
ENST00000684010.1:n.2361-1G>A
ENST00000684157.1:n.2361-1G>A
ENST00000684253.1:n.2264-1G>A
ENST00000684288.1:c.*464-1G>A	ENSP00000507143.1:n.*464-1G>A
ENST00000684313.1:n.1793-1G>A
ENST00000684332.1:n.2434-1G>A
ENST00000684371.1:n.2467-1G>A
ENST00000684404.1:n.2358-1G>A
ENST00000684442.1:n.2361-1G>A
ENST00000684555.1:c.*504-1G>A	ENSP00000507705.1:n.*504-1G>A
ENST00000684571.1:c.2133-1G>A	ENSP00000506935.1:n.2133-1G>A
ENST00000684593.1:c.*1997-1G>A	ENSP00000507005.1:n.*1997-1G>A
ENST00000684711.1:c.*688-1G>A	ENSP00000506841.1:n.*688-1G>A
XM_011520331.1:c.2292-1G>A	XP_011518633.1:n.2292-1G>A
XM_011520332.1:c.2295-1G>A	XP_011518634.1:n.2295-1G>A
XM_011520333.1:c.792-1G>A	XP_011518635.1:n.792-1G>A
XM_011520334.1:c.2295-1G>A	XP_011518636.1:n.2295-1G>A
XM_017018197.2:c.2361-1G>A	XP_016873686.1:n.2361-1G>A
XM_017018199.1:c.2358-1G>A	XP_016873688.1:n.2358-1G>A
XM_017018201.2:c.2361-1G>A	XP_016873690.1:n.2361-1G>A
XM_017018202.1:c.858-1G>A	XP_016873691.1:n.858-1G>A
XM_017018204.1:c.249-1G>A	XP_016873693.1:n.249-1G>A
XM_024448668.1:c.660-1G>A	XP_024304436.1:n.660-1G>A
XR_001747945.2:n.2433-1G>A
XR_001747946.2:n.2364-1G>A
XR_002957189.1:n.2433-1G>A
XR_930890.1:n.2358-1G>A
XR_930891.1:n.2358-1G>A
XR_930892.1:n.2358-1G>A
XR_930893.1:n.2355-1G>A