Canonical Allele Identifier: CA379805442

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430040T>A (hg19) ; chr11:g.17408493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408493T>A , CM000673.2:g.17408493T>A	GRCh38
NC_000011.9:g.17430040T>A , CM000673.1:g.17430040T>A	GRCh37
NC_000011.8:g.17386616T>A	NCBI36
NG_008867.1:g.73410A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2388A>T
ENST00000529967.6:n.978A>T
ENST00000532220.2:n.451A>T
ENST00000642611.2:n.2788A>T
ENST00000682051.1:n.2735A>T
ENST00000682110.1:n.2788A>T
ENST00000682140.1:c.2716A>T	ENSP00000507829.1:p.Ile906Phe
ENST00000682185.1:n.4024A>T
ENST00000682204.1:c.*857A>T	ENSP00000507094.1:n.*857A>T
ENST00000682215.1:n.2785A>T
ENST00000682288.1:c.*1150A>T	ENSP00000507506.1:n.*1150A>T
ENST00000682442.1:n.2909A>T
ENST00000682528.1:n.2785A>T
ENST00000682673.1:n.2732A>T
ENST00000682805.1:n.2785A>T
ENST00000682965.1:c.2716A>T	ENSP00000508229.1:p.Ile906Phe
ENST00000683093.1:n.2887A>T
ENST00000683136.1:c.2716A>T	ENSP00000507768.1:p.Ile906Phe
ENST00000683153.1:n.2944A>T
ENST00000683365.1:n.2890A>T
ENST00000683377.1:n.2788A>T
ENST00000683456.1:c.2719A>T	ENSP00000508318.1:p.Ile907Phe
ENST00000683522.1:n.2788A>T
ENST00000683562.1:c.*888A>T	ENSP00000508265.1:n.*888A>T
ENST00000683693.1:n.2785A>T
ENST00000683725.1:c.2719A>T	ENSP00000507496.1:p.Ile907Phe
ENST00000684010.1:n.2703A>T
ENST00000684157.1:n.2788A>T
ENST00000684253.1:n.2691A>T
ENST00000684288.1:c.*891A>T	ENSP00000507143.1:n.*891A>T
ENST00000684313.1:n.2220A>T
ENST00000684332.1:n.2861A>T
ENST00000684371.1:n.2894A>T
ENST00000684404.1:n.2785A>T
ENST00000684442.1:n.2788A>T
ENST00000684555.1:c.*931A>T	ENSP00000507705.1:n.*931A>T
ENST00000684571.1:c.2560A>T	ENSP00000506935.1:p.Ile854Phe
ENST00000684593.1:c.*2424A>T	ENSP00000507005.1:n.*2424A>T
ENST00000684711.1:c.*1115A>T	ENSP00000506841.1:n.*1115A>T
ENST00000302539.9:c.2722A>T	ENSP00000303960.4:p.Ile908Phe
ENST00000389817.8:c.2719A>T MANE Select	ENSP00000374467.4:p.Ile907Phe
ENST00000642271.1:c.2716A>T	ENSP00000493749.1:p.Ile906Phe
ENST00000642579.1:c.803A>T
ENST00000642611.1:n.2673A>T
ENST00000642902.1:c.2554A>T
ENST00000643260.1:c.2719A>T	ENSP00000494450.1:p.Ile907Phe
ENST00000643562.1:c.*695A>T	ENSP00000496124.1:n.*695A>T
ENST00000643925.1:c.763A>T
ENST00000644447.1:c.1075A>T	ENSP00000496282.1:p.Ile359Phe
ENST00000644472.1:c.*1080A>T	ENSP00000495378.1:n.*1080A>T
ENST00000644484.1:c.*928A>T	ENSP00000493558.1:n.*928A>T
ENST00000644542.1:c.*2424A>T	ENSP00000495532.1:n.*2424A>T
ENST00000644675.1:c.*891A>T	ENSP00000494567.1:n.*891A>T
ENST00000644757.1:c.*1024A>T	ENSP00000495085.1:n.*1024A>T
ENST00000644772.1:c.2785A>T	ENSP00000494321.1:p.Ile929Phe
ENST00000645076.1:c.1971A>T
ENST00000645744.1:c.*1083A>T	ENSP00000494564.1:n.*1083A>T
ENST00000645760.1:c.2994A>T
ENST00000645884.1:c.2719A>T	ENSP00000495516.1:p.Ile907Phe
ENST00000646003.1:c.*775A>T	ENSP00000495259.1:n.*775A>T
ENST00000646207.1:c.*1083A>T	ENSP00000495025.1:n.*1083A>T
ENST00000646276.1:c.*992A>T	ENSP00000496070.1:n.*992A>T
ENST00000646592.1:c.1945A>T
ENST00000646902.1:c.2716A>T	ENSP00000494101.1:p.Ile906Phe
ENST00000646993.1:c.*1115A>T	ENSP00000493720.1:n.*1115A>T
ENST00000647013.1:c.2725A>T	ENSP00000496741.1:n.2725A>T
ENST00000647015.1:c.2470A>T	ENSP00000495389.1:p.Ile824Phe
ENST00000647086.1:c.*2449A>T	ENSP00000493677.1:n.*2449A>T
ENST00000647158.1:c.*860A>T	ENSP00000495744.1:n.*860A>T
ENST00000302539.8:c.2722A>T	ENSP00000303960.4:p.Ile908Phe
ENST00000389817.7:c.2719A>T	ENSP00000374467.3:p.Ile907Phe
ENST00000526921.5:n.403A>T
ENST00000527905.5:c.2689A>T	ENSP00000431653.1:p.Ile897Phe
ENST00000529967.5:n.388A>T
NM_000352.4:c.2719A>T	NP_000343.2:p.Ile907Phe
NM_001287174.1:c.2722A>T	NP_001274103.1:p.Ile908Phe
XM_011520331.1:c.2719A>T	XP_011518633.1:p.Ile907Phe
XM_011520332.1:c.2722A>T	XP_011518634.1:p.Ile908Phe
XM_011520333.1:c.1219A>T	XP_011518635.1:p.Ile407Phe
XM_011520334.1:c.2722A>T	XP_011518636.1:p.Ile908Phe
XR_930890.1:n.2785A>T
XR_930891.1:n.2785A>T
XR_930892.1:n.2785A>T
XR_930893.1:n.2782A>T
NM_001351295.1:c.2785A>T	NP_001338224.1:p.Ile929Phe
NM_001351296.1:c.2719A>T	NP_001338225.1:p.Ile907Phe
NM_001351297.1:c.2716A>T	NP_001338226.1:p.Ile906Phe
NR_147094.1:n.2788A>T
XM_017018197.2:c.2788A>T	XP_016873686.1:p.Ile930Phe
XM_017018199.1:c.2785A>T	XP_016873688.1:p.Ile929Phe
XM_017018201.2:c.2788A>T	XP_016873690.1:p.Ile930Phe
XM_017018202.1:c.1285A>T	XP_016873691.1:p.Ile429Phe
XM_017018204.1:c.676A>T	XP_016873693.1:p.Ile226Phe
XM_024448668.1:c.1087A>T	XP_024304436.1:p.Ile363Phe
XR_001747945.2:n.2860A>T
XR_001747946.2:n.2791A>T
XR_002957189.1:n.2860A>T
NM_000352.6:c.2719A>T MANE Select	NP_000343.2:p.Ile907Phe
NM_001287174.2:c.2722A>T	NP_001274103.1:p.Ile908Phe
NM_001351295.2:c.2785A>T	NP_001338224.1:p.Ile929Phe
NM_001351296.2:c.2719A>T	NP_001338225.1:p.Ile907Phe
NM_001351297.2:c.2716A>T	NP_001338226.1:p.Ile906Phe
NR_147094.2:n.2788A>T
NM_001287174.3:c.2722A>T	NP_001274103.1:p.Ile908Phe