Canonical Allele Identifier: CA379794040

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17398356A>G , CM000673.2:g.17398356A>G	GRCh38
NC_000011.9:g.17419903A>G , CM000673.1:g.17419903A>G	GRCh37
NC_000011.8:g.17376479A>G	NCBI36
NG_008867.1:g.83547T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3736T>C MANE Select	NP_000343.2:p.Trp1246Arg
ENST00000389817.8:c.3736T>C MANE Select	ENSP00000374467.4:p.Trp1246Arg
NM_000352.4:c.3736T>C	NP_000343.2:p.Trp1246Arg
NM_001287174.1:c.3739T>C	NP_001274103.1:p.Trp1247Arg
NM_001287174.2:c.3739T>C	NP_001274103.1:p.Trp1247Arg
NM_001287174.3:c.3739T>C	NP_001274103.1:p.Trp1247Arg
NM_001351295.1:c.3802T>C	NP_001338224.1:p.Trp1268Arg
NM_001351295.2:c.3802T>C	NP_001338224.1:p.Trp1268Arg
NM_001351296.1:c.3736T>C	NP_001338225.1:p.Trp1246Arg
NM_001351296.2:c.3736T>C	NP_001338225.1:p.Trp1246Arg
NM_001351297.1:c.3733T>C	NP_001338226.1:p.Trp1245Arg
NM_001351297.2:c.3733T>C	NP_001338226.1:p.Trp1245Arg
NR_147094.1:n.3885T>C
NR_147094.2:n.3885T>C
ENST00000302539.8:c.3739T>C	ENSP00000303960.4:p.Trp1247Arg
ENST00000302539.9:c.3739T>C	ENSP00000303960.4:p.Trp1247Arg
ENST00000389817.7:c.3736T>C	ENSP00000374467.3:p.Trp1246Arg
ENST00000524561.2:n.3305T>C
ENST00000527905.5:c.*612T>C	ENSP00000431653.1:n.*612T>C
ENST00000528374.1:c.206T>C
ENST00000528374.2:c.315T>C
ENST00000529967.6:n.2075T>C
ENST00000531137.1:n.155T>C
ENST00000531891.1:c.104T>C
ENST00000532220.2:n.1468T>C
ENST00000642271.1:c.3733T>C	ENSP00000493749.1:p.Trp1245Arg
ENST00000642579.1:c.1820T>C
ENST00000642611.1:n.3690T>C
ENST00000642611.2:n.3805T>C
ENST00000642902.1:c.3518T>C
ENST00000643260.1:c.3736T>C	ENSP00000494450.1:p.Trp1246Arg
ENST00000643562.1:c.*1712T>C	ENSP00000496124.1:n.*1712T>C
ENST00000643925.1:c.1860T>C
ENST00000644057.2:n.179T>C
ENST00000644447.1:c.2187T>C	ENSP00000496282.1:n.2187T>C
ENST00000644484.1:c.*1991T>C	ENSP00000493558.1:n.*1991T>C
ENST00000644675.1:c.*1908T>C	ENSP00000494567.1:n.*1908T>C
ENST00000644757.1:c.*2021T>C	ENSP00000495085.1:n.*2021T>C
ENST00000644772.1:c.3802T>C	ENSP00000494321.1:p.Trp1268Arg
ENST00000645004.1:n.875T>C
ENST00000645004.2:n.1235T>C
ENST00000645076.1:c.2935T>C
ENST00000645417.1:c.924T>C
ENST00000645744.1:c.*2000T>C	ENSP00000494564.1:n.*2000T>C
ENST00000645760.1:c.4011T>C
ENST00000645884.1:c.*873T>C	ENSP00000495516.1:n.*873T>C
ENST00000646003.1:c.*1692T>C	ENSP00000495259.1:n.*1692T>C
ENST00000646207.1:c.*2203T>C	ENSP00000495025.1:n.*2203T>C
ENST00000646276.1:c.*2009T>C	ENSP00000496070.1:n.*2009T>C
ENST00000646592.1:c.3042T>C
ENST00000646902.1:c.3733T>C	ENSP00000494101.1:p.Trp1245Arg
ENST00000646993.1:c.*2132T>C	ENSP00000493720.1:n.*2132T>C
ENST00000647013.1:c.3742T>C	ENSP00000496741.1:n.3742T>C
ENST00000647015.1:c.3487T>C	ENSP00000495389.1:p.Trp1163Arg
ENST00000647086.1:c.*3466T>C	ENSP00000493677.1:n.*3466T>C
ENST00000647158.1:c.*1877T>C	ENSP00000495744.1:n.*1877T>C
ENST00000682051.1:n.3752T>C
ENST00000682110.1:n.3805T>C
ENST00000682140.1:c.3733T>C	ENSP00000507829.1:p.Trp1245Arg
ENST00000682185.1:n.5041T>C
ENST00000682204.1:c.*1874T>C	ENSP00000507094.1:n.*1874T>C
ENST00000682215.1:n.3802T>C
ENST00000682288.1:c.*2167T>C	ENSP00000507506.1:n.*2167T>C
ENST00000682442.1:n.4025T>C
ENST00000682528.1:n.3882T>C
ENST00000682673.1:n.3749T>C
ENST00000682805.1:n.3802T>C
ENST00000682965.1:c.*158T>C	ENSP00000508229.1:n.*158T>C
ENST00000683093.1:n.3904T>C
ENST00000683136.1:c.3733T>C	ENSP00000507768.1:p.Trp1245Arg
ENST00000683153.1:n.3961T>C
ENST00000683365.1:n.3907T>C
ENST00000683377.1:n.3805T>C
ENST00000683456.1:c.*873T>C	ENSP00000508318.1:n.*873T>C
ENST00000683522.1:n.3805T>C
ENST00000683562.1:c.*1905T>C	ENSP00000508265.1:n.*1905T>C
ENST00000683693.1:n.3882T>C
ENST00000683725.1:c.3736T>C	ENSP00000507496.1:p.Trp1246Arg
ENST00000684010.1:n.3800T>C
ENST00000684157.1:n.3805T>C
ENST00000684253.1:n.3708T>C
ENST00000684288.1:c.*1908T>C	ENSP00000507143.1:n.*1908T>C
ENST00000684313.1:n.3237T>C
ENST00000684332.1:n.3878T>C
ENST00000684371.1:n.3911T>C
ENST00000684404.1:n.3848T>C
ENST00000684442.1:n.3805T>C
ENST00000684555.1:c.*1948T>C	ENSP00000507705.1:n.*1948T>C
ENST00000684571.1:c.3577T>C	ENSP00000506935.1:p.Trp1193Arg
ENST00000684593.1:c.*3441T>C	ENSP00000507005.1:n.*3441T>C
ENST00000684711.1:c.*2132T>C	ENSP00000506841.1:n.*2132T>C
XM_011520331.1:c.3736T>C	XP_011518633.1:p.Trp1246Arg
XM_011520332.1:c.3739T>C	XP_011518634.1:p.Trp1247Arg
XM_011520333.1:c.2236T>C	XP_011518635.1:p.Trp746Arg
XM_017018197.2:c.3805T>C	XP_016873686.1:p.Trp1269Arg
XM_017018199.1:c.3802T>C	XP_016873688.1:p.Trp1268Arg
XM_017018201.2:c.3805T>C	XP_016873690.1:p.Trp1269Arg
XM_017018202.1:c.2302T>C	XP_016873691.1:p.Trp768Arg
XM_017018204.1:c.1693T>C	XP_016873693.1:p.Trp565Arg
XM_024448668.1:c.2104T>C	XP_024304436.1:p.Trp702Arg
XR_001747945.2:n.3877T>C
XR_001747946.2:n.3808T>C
XR_002957189.1:n.3957T>C
XR_930890.1:n.3802T>C
XR_930892.1:n.3702T>C
XR_930893.1:n.3699T>C