Canonical Allele Identifier: CA379801166

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406634-A-G
• MyVariant Identifiers: chr11:g.17428181A>G (hg19) ; chr11:g.17406634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406634A>G , CM000673.2:g.17406634A>G	GRCh38
NC_000011.9:g.17428181A>G , CM000673.1:g.17428181A>G	GRCh37
NC_000011.8:g.17384757A>G	NCBI36
NG_008867.1:g.75269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2886T>C
ENST00000529967.6:n.1656T>C
ENST00000532220.2:n.1049T>C
ENST00000642611.2:n.3386T>C
ENST00000645004.2:n.816T>C
ENST00000682051.1:n.3333T>C
ENST00000682110.1:n.3386T>C
ENST00000682140.1:c.3314T>C	ENSP00000507829.1:p.Leu1105Pro
ENST00000682185.1:n.4622T>C
ENST00000682204.1:c.*1455T>C	ENSP00000507094.1:n.*1455T>C
ENST00000682215.1:n.3383T>C
ENST00000682288.1:c.*1748T>C	ENSP00000507506.1:n.*1748T>C
ENST00000682442.1:n.3606T>C
ENST00000682528.1:n.3463T>C
ENST00000682673.1:n.3330T>C
ENST00000682805.1:n.3383T>C
ENST00000682965.1:c.3314T>C	ENSP00000508229.1:p.Leu1105Pro
ENST00000683093.1:n.3485T>C
ENST00000683136.1:c.3314T>C	ENSP00000507768.1:p.Leu1105Pro
ENST00000683153.1:n.3542T>C
ENST00000683365.1:n.3488T>C
ENST00000683377.1:n.3386T>C
ENST00000683456.1:c.*454T>C	ENSP00000508318.1:n.*454T>C
ENST00000683522.1:n.3386T>C
ENST00000683562.1:c.*1486T>C	ENSP00000508265.1:n.*1486T>C
ENST00000683693.1:n.3463T>C
ENST00000683725.1:c.3317T>C	ENSP00000507496.1:p.Leu1106Pro
ENST00000684010.1:n.3381T>C
ENST00000684157.1:n.3386T>C
ENST00000684253.1:n.3289T>C
ENST00000684288.1:c.*1489T>C	ENSP00000507143.1:n.*1489T>C
ENST00000684313.1:n.2818T>C
ENST00000684332.1:n.3459T>C
ENST00000684371.1:n.3492T>C
ENST00000684404.1:n.3429T>C
ENST00000684442.1:n.3386T>C
ENST00000684555.1:c.*1529T>C	ENSP00000507705.1:n.*1529T>C
ENST00000684571.1:c.3158T>C	ENSP00000506935.1:p.Leu1053Pro
ENST00000684593.1:c.*3022T>C	ENSP00000507005.1:n.*3022T>C
ENST00000684711.1:c.*1713T>C	ENSP00000506841.1:n.*1713T>C
ENST00000302539.9:c.3320T>C	ENSP00000303960.4:p.Leu1107Pro
ENST00000389817.8:c.3317T>C MANE Select	ENSP00000374467.4:p.Leu1106Pro
ENST00000642271.1:c.3314T>C	ENSP00000493749.1:p.Leu1105Pro
ENST00000642579.1:c.1401T>C
ENST00000642611.1:n.3271T>C
ENST00000642902.1:c.3099T>C
ENST00000643260.1:c.3317T>C	ENSP00000494450.1:p.Leu1106Pro
ENST00000643562.1:c.*1293T>C	ENSP00000496124.1:n.*1293T>C
ENST00000643925.1:c.1441T>C
ENST00000644447.1:c.1673T>C	ENSP00000496282.1:p.Leu558Pro
ENST00000644484.1:c.*1572T>C	ENSP00000493558.1:n.*1572T>C
ENST00000644542.1:c.*3121T>C	ENSP00000495532.1:n.*3121T>C
ENST00000644675.1:c.*1489T>C	ENSP00000494567.1:n.*1489T>C
ENST00000644757.1:c.*1602T>C	ENSP00000495085.1:n.*1602T>C
ENST00000644772.1:c.3383T>C	ENSP00000494321.1:p.Leu1128Pro
ENST00000645004.1:n.456T>C
ENST00000645076.1:c.2516T>C
ENST00000645417.1:c.483T>C
ENST00000645744.1:c.*1581T>C	ENSP00000494564.1:n.*1581T>C
ENST00000645760.1:c.3592T>C
ENST00000645884.1:c.*454T>C	ENSP00000495516.1:n.*454T>C
ENST00000646003.1:c.*1273T>C	ENSP00000495259.1:n.*1273T>C
ENST00000646207.1:c.*1784T>C	ENSP00000495025.1:n.*1784T>C
ENST00000646276.1:c.*1590T>C	ENSP00000496070.1:n.*1590T>C
ENST00000646592.1:c.2623T>C
ENST00000646902.1:c.3314T>C	ENSP00000494101.1:p.Leu1105Pro
ENST00000646993.1:c.*1713T>C	ENSP00000493720.1:n.*1713T>C
ENST00000647013.1:c.3323T>C	ENSP00000496741.1:n.3323T>C
ENST00000647015.1:c.3068T>C	ENSP00000495389.1:p.Leu1023Pro
ENST00000647086.1:c.*3047T>C	ENSP00000493677.1:n.*3047T>C
ENST00000647158.1:c.*1458T>C	ENSP00000495744.1:n.*1458T>C
ENST00000302539.8:c.3320T>C	ENSP00000303960.4:p.Leu1107Pro
ENST00000389817.7:c.3317T>C	ENSP00000374467.3:p.Leu1106Pro
ENST00000524561.1:n.449T>C
ENST00000527905.5:c.*193T>C	ENSP00000431653.1:n.*193T>C
NM_000352.4:c.3317T>C	NP_000343.2:p.Leu1106Pro
NM_001287174.1:c.3320T>C	NP_001274103.1:p.Leu1107Pro
XM_011520331.1:c.3317T>C	XP_011518633.1:p.Leu1106Pro
XM_011520332.1:c.3320T>C	XP_011518634.1:p.Leu1107Pro
XM_011520333.1:c.1817T>C	XP_011518635.1:p.Leu606Pro
XR_930890.1:n.3383T>C
XR_930891.1:n.3383T>C
XR_930892.1:n.3283T>C
XR_930893.1:n.3280T>C
NM_001351295.1:c.3383T>C	NP_001338224.1:p.Leu1128Pro
NM_001351296.1:c.3317T>C	NP_001338225.1:p.Leu1106Pro
NM_001351297.1:c.3314T>C	NP_001338226.1:p.Leu1105Pro
NR_147094.1:n.3466T>C
XM_017018197.2:c.3386T>C	XP_016873686.1:p.Leu1129Pro
XM_017018199.1:c.3383T>C	XP_016873688.1:p.Leu1128Pro
XM_017018201.2:c.3386T>C	XP_016873690.1:p.Leu1129Pro
XM_017018202.1:c.1883T>C	XP_016873691.1:p.Leu628Pro
XM_017018204.1:c.1274T>C	XP_016873693.1:p.Leu425Pro
XM_024448668.1:c.1685T>C	XP_024304436.1:p.Leu562Pro
XR_001747945.2:n.3458T>C
XR_001747946.2:n.3389T>C
XR_002957189.1:n.3538T>C
NM_000352.6:c.3317T>C MANE Select	NP_000343.2:p.Leu1106Pro
NM_001287174.2:c.3320T>C	NP_001274103.1:p.Leu1107Pro
NM_001351295.2:c.3383T>C	NP_001338224.1:p.Leu1128Pro
NM_001351296.2:c.3317T>C	NP_001338225.1:p.Leu1106Pro
NM_001351297.2:c.3314T>C	NP_001338226.1:p.Leu1105Pro
NR_147094.2:n.3466T>C
NM_001287174.3:c.3320T>C	NP_001274103.1:p.Leu1107Pro