Canonical Allele Identifier: CA379805104

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429987A>C (hg19) ; chr11:g.17408440A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408440A>C , CM000673.2:g.17408440A>C	GRCh38
NC_000011.9:g.17429987A>C , CM000673.1:g.17429987A>C	GRCh37
NC_000011.8:g.17386563A>C	NCBI36
NG_008867.1:g.73463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2441T>G
ENST00000529967.6:n.1031T>G
ENST00000532220.2:n.504T>G
ENST00000642611.2:n.2841T>G
ENST00000682051.1:n.2788T>G
ENST00000682110.1:n.2841T>G
ENST00000682140.1:c.2769T>G	ENSP00000507829.1:p.Phe923Leu
ENST00000682185.1:n.4077T>G
ENST00000682204.1:c.*910T>G	ENSP00000507094.1:n.*910T>G
ENST00000682215.1:n.2838T>G
ENST00000682288.1:c.*1203T>G	ENSP00000507506.1:n.*1203T>G
ENST00000682442.1:n.2962T>G
ENST00000682528.1:n.2838T>G
ENST00000682673.1:n.2785T>G
ENST00000682805.1:n.2838T>G
ENST00000682965.1:c.2769T>G	ENSP00000508229.1:p.Phe923Leu
ENST00000683093.1:n.2940T>G
ENST00000683136.1:c.2769T>G	ENSP00000507768.1:p.Phe923Leu
ENST00000683153.1:n.2997T>G
ENST00000683365.1:n.2943T>G
ENST00000683377.1:n.2841T>G
ENST00000683456.1:c.2772T>G	ENSP00000508318.1:p.Phe924Leu
ENST00000683522.1:n.2841T>G
ENST00000683562.1:c.*941T>G	ENSP00000508265.1:n.*941T>G
ENST00000683693.1:n.2838T>G
ENST00000683725.1:c.2772T>G	ENSP00000507496.1:p.Phe924Leu
ENST00000684010.1:n.2756T>G
ENST00000684157.1:n.2841T>G
ENST00000684253.1:n.2744T>G
ENST00000684288.1:c.*944T>G	ENSP00000507143.1:n.*944T>G
ENST00000684313.1:n.2273T>G
ENST00000684332.1:n.2914T>G
ENST00000684371.1:n.2947T>G
ENST00000684404.1:n.2838T>G
ENST00000684442.1:n.2841T>G
ENST00000684555.1:c.*984T>G	ENSP00000507705.1:n.*984T>G
ENST00000684571.1:c.2613T>G	ENSP00000506935.1:p.Phe871Leu
ENST00000684593.1:c.*2477T>G	ENSP00000507005.1:n.*2477T>G
ENST00000684711.1:c.*1168T>G	ENSP00000506841.1:n.*1168T>G
ENST00000302539.9:c.2775T>G	ENSP00000303960.4:p.Phe925Leu
ENST00000389817.8:c.2772T>G MANE Select	ENSP00000374467.4:p.Phe924Leu
ENST00000642271.1:c.2769T>G	ENSP00000493749.1:p.Phe923Leu
ENST00000642579.1:c.856T>G
ENST00000642611.1:n.2726T>G
ENST00000642902.1:c.2607T>G
ENST00000643260.1:c.2772T>G	ENSP00000494450.1:p.Phe924Leu
ENST00000643562.1:c.*748T>G	ENSP00000496124.1:n.*748T>G
ENST00000643925.1:c.816T>G
ENST00000644447.1:c.1128T>G	ENSP00000496282.1:p.Phe376Leu
ENST00000644472.1:c.*1133T>G	ENSP00000495378.1:n.*1133T>G
ENST00000644484.1:c.*981T>G	ENSP00000493558.1:n.*981T>G
ENST00000644542.1:c.*2477T>G	ENSP00000495532.1:n.*2477T>G
ENST00000644675.1:c.*944T>G	ENSP00000494567.1:n.*944T>G
ENST00000644757.1:c.*1077T>G	ENSP00000495085.1:n.*1077T>G
ENST00000644772.1:c.2838T>G	ENSP00000494321.1:p.Phe946Leu
ENST00000645076.1:c.2024T>G
ENST00000645744.1:c.*1136T>G	ENSP00000494564.1:n.*1136T>G
ENST00000645760.1:c.3047T>G
ENST00000645884.1:c.2772T>G	ENSP00000495516.1:p.Phe924Leu
ENST00000646003.1:c.*828T>G	ENSP00000495259.1:n.*828T>G
ENST00000646207.1:c.*1136T>G	ENSP00000495025.1:n.*1136T>G
ENST00000646276.1:c.*1045T>G	ENSP00000496070.1:n.*1045T>G
ENST00000646592.1:c.1998T>G
ENST00000646902.1:c.2769T>G	ENSP00000494101.1:p.Phe923Leu
ENST00000646993.1:c.*1168T>G	ENSP00000493720.1:n.*1168T>G
ENST00000647013.1:c.2778T>G	ENSP00000496741.1:n.2778T>G
ENST00000647015.1:c.2523T>G	ENSP00000495389.1:p.Phe841Leu
ENST00000647086.1:c.*2502T>G	ENSP00000493677.1:n.*2502T>G
ENST00000647158.1:c.*913T>G	ENSP00000495744.1:n.*913T>G
ENST00000302539.8:c.2775T>G	ENSP00000303960.4:p.Phe925Leu
ENST00000389817.7:c.2772T>G	ENSP00000374467.3:p.Phe924Leu
ENST00000526921.5:n.456T>G
ENST00000527905.5:c.2742T>G	ENSP00000431653.1:p.Phe914Leu
ENST00000529967.5:n.441T>G
NM_000352.4:c.2772T>G	NP_000343.2:p.Phe924Leu
NM_001287174.1:c.2775T>G	NP_001274103.1:p.Phe925Leu
XM_011520331.1:c.2772T>G	XP_011518633.1:p.Phe924Leu
XM_011520332.1:c.2775T>G	XP_011518634.1:p.Phe925Leu
XM_011520333.1:c.1272T>G	XP_011518635.1:p.Phe424Leu
XM_011520334.1:c.2775T>G	XP_011518636.1:p.Phe925Leu
XR_930890.1:n.2838T>G
XR_930891.1:n.2838T>G
XR_930892.1:n.2838T>G
XR_930893.1:n.2835T>G
NM_001351295.1:c.2838T>G	NP_001338224.1:p.Phe946Leu
NM_001351296.1:c.2772T>G	NP_001338225.1:p.Phe924Leu
NM_001351297.1:c.2769T>G	NP_001338226.1:p.Phe923Leu
NR_147094.1:n.2841T>G
XM_017018197.2:c.2841T>G	XP_016873686.1:p.Phe947Leu
XM_017018199.1:c.2838T>G	XP_016873688.1:p.Phe946Leu
XM_017018201.2:c.2841T>G	XP_016873690.1:p.Phe947Leu
XM_017018202.1:c.1338T>G	XP_016873691.1:p.Phe446Leu
XM_017018204.1:c.729T>G	XP_016873693.1:p.Phe243Leu
XM_024448668.1:c.1140T>G	XP_024304436.1:p.Phe380Leu
XR_001747945.2:n.2913T>G
XR_001747946.2:n.2844T>G
XR_002957189.1:n.2913T>G
NM_000352.6:c.2772T>G MANE Select	NP_000343.2:p.Phe924Leu
NM_001287174.2:c.2775T>G	NP_001274103.1:p.Phe925Leu
NM_001351295.2:c.2838T>G	NP_001338224.1:p.Phe946Leu
NM_001351296.2:c.2772T>G	NP_001338225.1:p.Phe924Leu
NM_001351297.2:c.2769T>G	NP_001338226.1:p.Phe923Leu
NR_147094.2:n.2841T>G
NM_001287174.3:c.2775T>G	NP_001274103.1:p.Phe925Leu