Canonical Allele Identifier: CA379793654

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397788C>T , CM000673.2:g.17397788C>T	GRCh38
NC_000011.9:g.17419335C>T , CM000673.1:g.17419335C>T	GRCh37
NC_000011.8:g.17375911C>T	NCBI36
NG_008867.1:g.84115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3763G>A MANE Select	NP_000343.2:p.Gly1255Ser
ENST00000389817.8:c.3763G>A MANE Select	ENSP00000374467.4:p.Gly1255Ser
NM_000352.4:c.3763G>A	NP_000343.2:p.Gly1255Ser
NM_001287174.1:c.3766G>A	NP_001274103.1:p.Gly1256Ser
NM_001287174.2:c.3766G>A	NP_001274103.1:p.Gly1256Ser
NM_001287174.3:c.3766G>A	NP_001274103.1:p.Gly1256Ser
NM_001351295.1:c.3829G>A	NP_001338224.1:p.Gly1277Ser
NM_001351295.2:c.3829G>A	NP_001338224.1:p.Gly1277Ser
NM_001351296.1:c.3763G>A	NP_001338225.1:p.Gly1255Ser
NM_001351296.2:c.3763G>A	NP_001338225.1:p.Gly1255Ser
NM_001351297.1:c.3760G>A	NP_001338226.1:p.Gly1254Ser
NM_001351297.2:c.3760G>A	NP_001338226.1:p.Gly1254Ser
NR_147094.1:n.3912G>A
NR_147094.2:n.3912G>A
ENST00000302539.8:c.3766G>A	ENSP00000303960.4:p.Gly1256Ser
ENST00000302539.9:c.3766G>A	ENSP00000303960.4:p.Gly1256Ser
ENST00000389817.7:c.3763G>A	ENSP00000374467.3:p.Gly1255Ser
ENST00000524561.2:n.3323-475G>A
ENST00000527905.5:c.*639G>A	ENSP00000431653.1:n.*639G>A
ENST00000528374.1:c.233G>A
ENST00000528374.2:c.342G>A
ENST00000529967.6:n.2102G>A
ENST00000531137.1:n.182G>A
ENST00000531891.1:c.131G>A
ENST00000532220.2:n.1495G>A
ENST00000642271.1:c.3760G>A	ENSP00000493749.1:p.Gly1254Ser
ENST00000642579.1:c.1847G>A
ENST00000642611.1:n.3717G>A
ENST00000642611.2:n.3832G>A
ENST00000642902.1:c.3545G>A
ENST00000643260.1:c.3763G>A	ENSP00000494450.1:p.Gly1255Ser
ENST00000643562.1:c.*1739G>A	ENSP00000496124.1:n.*1739G>A
ENST00000643925.1:c.1887G>A
ENST00000644057.2:n.206G>A
ENST00000644447.1:c.2214G>A	ENSP00000496282.1:n.2214G>A
ENST00000644484.1:c.*2018G>A	ENSP00000493558.1:n.*2018G>A
ENST00000644675.1:c.*1935G>A	ENSP00000494567.1:n.*1935G>A
ENST00000644757.1:c.*2048G>A	ENSP00000495085.1:n.*2048G>A
ENST00000644772.1:c.3829G>A	ENSP00000494321.1:p.Gly1277Ser
ENST00000645004.1:n.902G>A
ENST00000645004.2:n.1262G>A
ENST00000645076.1:c.2962G>A
ENST00000645417.1:c.951G>A
ENST00000645744.1:c.*2027G>A	ENSP00000494564.1:n.*2027G>A
ENST00000645760.1:c.4038G>A
ENST00000645884.1:c.*900G>A	ENSP00000495516.1:n.*900G>A
ENST00000646003.1:c.*1719G>A	ENSP00000495259.1:n.*1719G>A
ENST00000646207.1:c.*2230G>A	ENSP00000495025.1:n.*2230G>A
ENST00000646276.1:c.*2036G>A	ENSP00000496070.1:n.*2036G>A
ENST00000646592.1:c.3069G>A
ENST00000646902.1:c.3760G>A	ENSP00000494101.1:p.Gly1254Ser
ENST00000646993.1:c.*2159G>A	ENSP00000493720.1:n.*2159G>A
ENST00000647013.1:c.3769G>A	ENSP00000496741.1:n.3769G>A
ENST00000647015.1:c.3514G>A	ENSP00000495389.1:p.Gly1172Ser
ENST00000647086.1:c.*3484-475G>A	ENSP00000493677.1:n.*3484-475G>A
ENST00000647158.1:c.*1904G>A	ENSP00000495744.1:n.*1904G>A
ENST00000682051.1:n.3779G>A
ENST00000682110.1:n.3832G>A
ENST00000682140.1:c.3760G>A	ENSP00000507829.1:p.Gly1254Ser
ENST00000682185.1:n.5068G>A
ENST00000682204.1:c.*1901G>A	ENSP00000507094.1:n.*1901G>A
ENST00000682215.1:n.3829G>A
ENST00000682288.1:c.*2194G>A	ENSP00000507506.1:n.*2194G>A
ENST00000682442.1:n.4052G>A
ENST00000682528.1:n.3909G>A
ENST00000682673.1:n.3776G>A
ENST00000682805.1:n.3829G>A
ENST00000682965.1:c.*185G>A	ENSP00000508229.1:n.*185G>A
ENST00000683093.1:n.3931G>A
ENST00000683136.1:c.3751-475G>A	ENSP00000507768.1:n.3751-475G>A
ENST00000683153.1:n.3979-475G>A
ENST00000683365.1:n.3934G>A
ENST00000683377.1:n.3832G>A
ENST00000683456.1:c.*900G>A	ENSP00000508318.1:n.*900G>A
ENST00000683522.1:n.3832G>A
ENST00000683562.1:c.*1932G>A	ENSP00000508265.1:n.*1932G>A
ENST00000683693.1:n.3909G>A
ENST00000683725.1:c.3763G>A	ENSP00000507496.1:p.Gly1255Ser
ENST00000684010.1:n.3827G>A
ENST00000684157.1:n.3832G>A
ENST00000684253.1:n.3735G>A
ENST00000684288.1:c.*1935G>A	ENSP00000507143.1:n.*1935G>A
ENST00000684313.1:n.3264G>A
ENST00000684332.1:n.3905G>A
ENST00000684371.1:n.3938G>A
ENST00000684404.1:n.3875G>A
ENST00000684442.1:n.3832G>A
ENST00000684555.1:c.*1975G>A	ENSP00000507705.1:n.*1975G>A
ENST00000684571.1:c.3604G>A	ENSP00000506935.1:p.Gly1202Ser
ENST00000684593.1:c.*3468G>A	ENSP00000507005.1:n.*3468G>A
ENST00000684711.1:c.*2159G>A	ENSP00000506841.1:n.*2159G>A
XM_011520331.1:c.3763G>A	XP_011518633.1:p.Gly1255Ser
XM_011520332.1:c.3766G>A	XP_011518634.1:p.Gly1256Ser
XM_011520333.1:c.2263G>A	XP_011518635.1:p.Gly755Ser
XM_017018197.2:c.3832G>A	XP_016873686.1:p.Gly1278Ser
XM_017018199.1:c.3829G>A	XP_016873688.1:p.Gly1277Ser
XM_017018201.2:c.3832G>A	XP_016873690.1:p.Gly1278Ser
XM_017018202.1:c.2329G>A	XP_016873691.1:p.Gly777Ser
XM_017018204.1:c.1720G>A	XP_016873693.1:p.Gly574Ser
XM_024448668.1:c.2131G>A	XP_024304436.1:p.Gly711Ser
XR_001747945.2:n.3904G>A
XR_001747946.2:n.3835G>A
XR_002957189.1:n.3984G>A
XR_930890.1:n.3829G>A