Canonical Allele Identifier: CA379803006

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428330G>T (hg19) ; chr11:g.17406783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406783G>T , CM000673.2:g.17406783G>T	GRCh38
NC_000011.9:g.17428330G>T , CM000673.1:g.17428330G>T	GRCh37
NC_000011.8:g.17384906G>T	NCBI36
NG_008867.1:g.75120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2737C>A
ENST00000529967.6:n.1507C>A
ENST00000532220.2:n.900C>A
ENST00000642611.2:n.3237C>A
ENST00000645004.2:n.667C>A
ENST00000682051.1:n.3184C>A
ENST00000682110.1:n.3237C>A
ENST00000682140.1:c.3165C>A	ENSP00000507829.1:p.Cys1055Ter
ENST00000682185.1:n.4473C>A
ENST00000682204.1:c.*1306C>A	ENSP00000507094.1:n.*1306C>A
ENST00000682215.1:n.3234C>A
ENST00000682288.1:c.*1599C>A	ENSP00000507506.1:n.*1599C>A
ENST00000682442.1:n.3457C>A
ENST00000682528.1:n.3314C>A
ENST00000682673.1:n.3181C>A
ENST00000682805.1:n.3234C>A
ENST00000682965.1:c.3165C>A	ENSP00000508229.1:p.Cys1055Ter
ENST00000683093.1:n.3336C>A
ENST00000683136.1:c.3165C>A	ENSP00000507768.1:p.Cys1055Ter
ENST00000683153.1:n.3393C>A
ENST00000683365.1:n.3339C>A
ENST00000683377.1:n.3237C>A
ENST00000683456.1:c.*305C>A	ENSP00000508318.1:n.*305C>A
ENST00000683522.1:n.3237C>A
ENST00000683562.1:c.*1337C>A	ENSP00000508265.1:n.*1337C>A
ENST00000683693.1:n.3314C>A
ENST00000683725.1:c.3168C>A	ENSP00000507496.1:p.Cys1056Ter
ENST00000684010.1:n.3232C>A
ENST00000684157.1:n.3237C>A
ENST00000684253.1:n.3140C>A
ENST00000684288.1:c.*1340C>A	ENSP00000507143.1:n.*1340C>A
ENST00000684313.1:n.2669C>A
ENST00000684332.1:n.3310C>A
ENST00000684371.1:n.3343C>A
ENST00000684404.1:n.3280C>A
ENST00000684442.1:n.3237C>A
ENST00000684555.1:c.*1380C>A	ENSP00000507705.1:n.*1380C>A
ENST00000684571.1:c.3009C>A	ENSP00000506935.1:p.Cys1003Ter
ENST00000684593.1:c.*2873C>A	ENSP00000507005.1:n.*2873C>A
ENST00000684711.1:c.*1564C>A	ENSP00000506841.1:n.*1564C>A
ENST00000302539.9:c.3171C>A	ENSP00000303960.4:p.Cys1057Ter
ENST00000389817.8:c.3168C>A MANE Select	ENSP00000374467.4:p.Cys1056Ter
ENST00000642271.1:c.3165C>A	ENSP00000493749.1:p.Cys1055Ter
ENST00000642579.1:c.1252C>A
ENST00000642611.1:n.3122C>A
ENST00000642902.1:c.2950C>A
ENST00000643260.1:c.3168C>A	ENSP00000494450.1:p.Cys1056Ter
ENST00000643562.1:c.*1144C>A	ENSP00000496124.1:n.*1144C>A
ENST00000643925.1:c.1292C>A
ENST00000644447.1:c.1524C>A	ENSP00000496282.1:p.Cys508Ter
ENST00000644484.1:c.*1423C>A	ENSP00000493558.1:n.*1423C>A
ENST00000644542.1:c.*2972C>A	ENSP00000495532.1:n.*2972C>A
ENST00000644675.1:c.*1340C>A	ENSP00000494567.1:n.*1340C>A
ENST00000644757.1:c.*1453C>A	ENSP00000495085.1:n.*1453C>A
ENST00000644772.1:c.3234C>A	ENSP00000494321.1:p.Cys1078Ter
ENST00000645004.1:n.307C>A
ENST00000645076.1:c.2367C>A
ENST00000645417.1:c.334C>A
ENST00000645744.1:c.*1432C>A	ENSP00000494564.1:n.*1432C>A
ENST00000645760.1:c.3443C>A
ENST00000645884.1:c.*305C>A	ENSP00000495516.1:n.*305C>A
ENST00000646003.1:c.*1124C>A	ENSP00000495259.1:n.*1124C>A
ENST00000646207.1:c.*1635C>A	ENSP00000495025.1:n.*1635C>A
ENST00000646276.1:c.*1441C>A	ENSP00000496070.1:n.*1441C>A
ENST00000646592.1:c.2474C>A
ENST00000646902.1:c.3165C>A	ENSP00000494101.1:p.Cys1055Ter
ENST00000646993.1:c.*1564C>A	ENSP00000493720.1:n.*1564C>A
ENST00000647013.1:c.3174C>A	ENSP00000496741.1:n.3174C>A
ENST00000647015.1:c.2919C>A	ENSP00000495389.1:p.Cys973Ter
ENST00000647086.1:c.*2898C>A	ENSP00000493677.1:n.*2898C>A
ENST00000647158.1:c.*1309C>A	ENSP00000495744.1:n.*1309C>A
ENST00000302539.8:c.3171C>A	ENSP00000303960.4:p.Cys1057Ter
ENST00000389817.7:c.3168C>A	ENSP00000374467.3:p.Cys1056Ter
ENST00000524561.1:n.300C>A
ENST00000526921.5:n.852C>A
ENST00000527905.5:c.*44C>A	ENSP00000431653.1:n.*44C>A
NM_000352.4:c.3168C>A	NP_000343.2:p.Cys1056Ter
NM_001287174.1:c.3171C>A	NP_001274103.1:p.Cys1057Ter
XM_011520331.1:c.3168C>A	XP_011518633.1:p.Cys1056Ter
XM_011520332.1:c.3171C>A	XP_011518634.1:p.Cys1057Ter
XM_011520333.1:c.1668C>A	XP_011518635.1:p.Cys556Ter
XR_930890.1:n.3234C>A
XR_930891.1:n.3234C>A
XR_930892.1:n.3134C>A
XR_930893.1:n.3131C>A
NM_001351295.1:c.3234C>A	NP_001338224.1:p.Cys1078Ter
NM_001351296.1:c.3168C>A	NP_001338225.1:p.Cys1056Ter
NM_001351297.1:c.3165C>A	NP_001338226.1:p.Cys1055Ter
NR_147094.1:n.3317C>A
XM_017018197.2:c.3237C>A	XP_016873686.1:p.Cys1079Ter
XM_017018199.1:c.3234C>A	XP_016873688.1:p.Cys1078Ter
XM_017018201.2:c.3237C>A	XP_016873690.1:p.Cys1079Ter
XM_017018202.1:c.1734C>A	XP_016873691.1:p.Cys578Ter
XM_017018204.1:c.1125C>A	XP_016873693.1:p.Cys375Ter
XM_024448668.1:c.1536C>A	XP_024304436.1:p.Cys512Ter
XR_001747945.2:n.3309C>A
XR_001747946.2:n.3240C>A
XR_002957189.1:n.3389C>A
NM_000352.6:c.3168C>A MANE Select	NP_000343.2:p.Cys1056Ter
NM_001287174.2:c.3171C>A	NP_001274103.1:p.Cys1057Ter
NM_001351295.2:c.3234C>A	NP_001338224.1:p.Cys1078Ter
NM_001351296.2:c.3168C>A	NP_001338225.1:p.Cys1056Ter
NM_001351297.2:c.3165C>A	NP_001338226.1:p.Cys1055Ter
NR_147094.2:n.3317C>A
NM_001287174.3:c.3171C>A	NP_001274103.1:p.Cys1057Ter