Canonical Allele Identifier: CA473298324

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953900309
• MyVariant Identifiers: chr11:g.17417463G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395916G>T , CM000673.2:g.17395916G>T	GRCh38
NC_000011.9:g.17417463G>T , CM000673.1:g.17417463G>T	GRCh37
NC_000011.8:g.17374039G>T	NCBI36
NG_008867.1:g.85987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3735C>A
ENST00000528374.2:c.725C>A
ENST00000529967.6:n.2473C>A
ENST00000532220.2:n.3367C>A
ENST00000642611.2:n.5334C>A
ENST00000644057.2:n.577C>A
ENST00000645004.2:n.1633C>A
ENST00000682051.1:n.4296C>A
ENST00000682110.1:n.4349C>A
ENST00000682140.1:c.4000C>A	ENSP00000507829.1:p.Pro1334Thr
ENST00000682185.1:n.5439C>A
ENST00000682204.1:c.*2272C>A	ENSP00000507094.1:n.*2272C>A
ENST00000682215.1:n.4716C>A
ENST00000682288.1:c.*2565C>A	ENSP00000507506.1:n.*2565C>A
ENST00000682442.1:n.4569C>A
ENST00000682528.1:n.4426C>A
ENST00000682673.1:n.4293C>A
ENST00000682805.1:n.4754C>A
ENST00000682965.1:c.*556C>A	ENSP00000508229.1:n.*556C>A
ENST00000683093.1:n.5433C>A
ENST00000683136.1:c.4017C>A	ENSP00000507768.1:p.Gly1339=
ENST00000683153.1:n.4391C>A
ENST00000683365.1:n.4451C>A
ENST00000683377.1:n.4349C>A
ENST00000683456.1:c.*1271C>A	ENSP00000508318.1:n.*1271C>A
ENST00000683522.1:n.4349C>A
ENST00000683562.1:c.*2303C>A	ENSP00000508265.1:n.*2303C>A
ENST00000683693.1:n.5781C>A
ENST00000683725.1:c.4134C>A	ENSP00000507496.1:p.Gly1378=
ENST00000684010.1:n.4344C>A
ENST00000684157.1:n.5334C>A
ENST00000684253.1:n.4252C>A
ENST00000684288.1:c.*2306C>A	ENSP00000507143.1:n.*2306C>A
ENST00000684313.1:n.3781C>A
ENST00000684332.1:n.4422C>A
ENST00000684371.1:n.4455C>A
ENST00000684404.1:n.5377C>A
ENST00000684442.1:n.4573C>A
ENST00000684555.1:c.*2346C>A	ENSP00000507705.1:n.*2346C>A
ENST00000684571.1:c.3975C>A	ENSP00000506935.1:p.Gly1325=
ENST00000684593.1:c.*3839C>A	ENSP00000507005.1:n.*3839C>A
ENST00000684711.1:c.*2530C>A	ENSP00000506841.1:n.*2530C>A
ENST00000302539.9:c.4137C>A	ENSP00000303960.4:p.Gly1379=
ENST00000389817.8:c.4134C>A MANE Select	ENSP00000374467.4:p.Gly1378=
ENST00000642271.1:c.4131C>A	ENSP00000493749.1:p.Gly1377=
ENST00000642579.1:c.2188C>A
ENST00000642611.1:n.5219C>A
ENST00000642902.1:c.3916C>A
ENST00000643260.1:c.4134C>A	ENSP00000494450.1:p.Gly1378=
ENST00000643562.1:c.*2256C>A	ENSP00000496124.1:n.*2256C>A
ENST00000643925.1:c.2774C>A
ENST00000644057.1:n.211C>A
ENST00000644484.1:c.*3520C>A	ENSP00000493558.1:n.*3520C>A
ENST00000644675.1:c.*2306C>A	ENSP00000494567.1:n.*2306C>A
ENST00000644757.1:c.*3202+348C>A	ENSP00000495085.1:n.*3202+348C>A
ENST00000644772.1:c.4200C>A	ENSP00000494321.1:p.Gly1400=
ENST00000645004.1:n.1827C>A
ENST00000645076.1:c.3333C>A
ENST00000645417.1:c.1322C>A
ENST00000645744.1:c.*3899C>A	ENSP00000494564.1:n.*3899C>A
ENST00000645760.1:c.4555C>A
ENST00000645884.1:c.*1417C>A	ENSP00000495516.1:n.*1417C>A
ENST00000646003.1:c.*2236C>A	ENSP00000495259.1:n.*2236C>A
ENST00000646207.1:c.*2971C>A	ENSP00000495025.1:n.*2971C>A
ENST00000646276.1:c.*3538C>A	ENSP00000496070.1:n.*3538C>A
ENST00000646592.1:c.3440C>A
ENST00000646902.1:c.4101C>A	ENSP00000494101.1:p.Gly1367=
ENST00000646993.1:c.*2676C>A	ENSP00000493720.1:n.*2676C>A
ENST00000647013.1:c.4140C>A	ENSP00000496741.1:n.4140C>A
ENST00000647015.1:c.3885C>A	ENSP00000495389.1:p.Gly1295=
ENST00000647086.1:c.*3720C>A	ENSP00000493677.1:n.*3720C>A
ENST00000647158.1:c.*2421C>A	ENSP00000495744.1:n.*2421C>A
ENST00000302539.8:c.4137C>A	ENSP00000303960.4:p.Gly1379=
ENST00000389817.7:c.4134C>A	ENSP00000374467.3:p.Gly1378=
ENST00000526168.5:c.2C>A
ENST00000532220.1:n.608C>A
NM_000352.4:c.4134C>A	NP_000343.2:p.Gly1378=
NM_001287174.1:c.4137C>A	NP_001274103.1:p.Gly1379=
XM_011520331.1:c.4134C>A	XP_011518633.1:p.Gly1378=
XM_011520332.1:c.4137C>A	XP_011518634.1:p.Gly1379=
XM_011520333.1:c.2634C>A	XP_011518635.1:p.Gly878=
XR_930890.1:n.4200C>A
NM_001351295.1:c.4200C>A	NP_001338224.1:p.Gly1400=
NM_001351296.1:c.4134C>A	NP_001338225.1:p.Gly1378=
NM_001351297.1:c.4131C>A	NP_001338226.1:p.Gly1377=
NR_147094.1:n.4429C>A
XM_017018197.2:c.4203C>A	XP_016873686.1:p.Gly1401=
XM_017018199.1:c.4200C>A	XP_016873688.1:p.Gly1400=
XM_017018201.2:c.4203C>A	XP_016873690.1:p.Gly1401=
XM_017018202.1:c.2700C>A	XP_016873691.1:p.Gly900=
XM_017018204.1:c.2091C>A	XP_016873693.1:p.Gly697=
XM_024448668.1:c.2502C>A	XP_024304436.1:p.Gly834=
XR_001747945.2:n.4275C>A
XR_001747946.2:n.4206C>A
XR_002957189.1:n.5856C>A
NM_000352.6:c.4134C>A MANE Select	NP_000343.2:p.Gly1378=
NM_001287174.2:c.4137C>A	NP_001274103.1:p.Gly1379=
NM_001351295.2:c.4200C>A	NP_001338224.1:p.Gly1400=
NM_001351296.2:c.4134C>A	NP_001338225.1:p.Gly1378=
NM_001351297.2:c.4131C>A	NP_001338226.1:p.Gly1377=
NR_147094.2:n.4429C>A
NM_001287174.3:c.4137C>A	NP_001274103.1:p.Gly1379=