Canonical Allele Identifier: CA379787835

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395867-C-A
• MyVariant Identifiers: chr11:g.17417414C>A (hg19) ; chr11:g.17395867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395867C>A , CM000673.2:g.17395867C>A	GRCh38
NC_000011.9:g.17417414C>A , CM000673.1:g.17417414C>A	GRCh37
NC_000011.8:g.17373990C>A	NCBI36
NG_008867.1:g.86036G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3784G>T
ENST00000528374.2:c.774G>T
ENST00000529967.6:n.2522G>T
ENST00000532220.2:n.3416G>T
ENST00000642611.2:n.5383G>T
ENST00000644057.2:n.626G>T
ENST00000645004.2:n.1682G>T
ENST00000682051.1:n.4345G>T
ENST00000682110.1:n.4398G>T
ENST00000682140.1:c.4049G>T	ENSP00000507829.1:p.Gly1350Val
ENST00000682185.1:n.5488G>T
ENST00000682204.1:c.*2321G>T	ENSP00000507094.1:n.*2321G>T
ENST00000682215.1:n.4765G>T
ENST00000682288.1:c.*2614G>T	ENSP00000507506.1:n.*2614G>T
ENST00000682442.1:n.4618G>T
ENST00000682528.1:n.4475G>T
ENST00000682673.1:n.4342G>T
ENST00000682805.1:n.4803G>T
ENST00000682965.1:c.*605G>T	ENSP00000508229.1:n.*605G>T
ENST00000683093.1:n.5482G>T
ENST00000683136.1:c.4066G>T	ENSP00000507768.1:p.Val1356Leu
ENST00000683153.1:n.4440G>T
ENST00000683365.1:n.4500G>T
ENST00000683377.1:n.4398G>T
ENST00000683456.1:c.*1320G>T	ENSP00000508318.1:n.*1320G>T
ENST00000683522.1:n.4398G>T
ENST00000683562.1:c.*2352G>T	ENSP00000508265.1:n.*2352G>T
ENST00000683693.1:n.5830G>T
ENST00000683725.1:c.4183G>T	ENSP00000507496.1:p.Val1395Leu
ENST00000684010.1:n.4393G>T
ENST00000684157.1:n.5383G>T
ENST00000684253.1:n.4301G>T
ENST00000684288.1:c.*2355G>T	ENSP00000507143.1:n.*2355G>T
ENST00000684313.1:n.3830G>T
ENST00000684332.1:n.4471G>T
ENST00000684371.1:n.4504G>T
ENST00000684404.1:n.5426G>T
ENST00000684442.1:n.4622G>T
ENST00000684555.1:c.*2395G>T	ENSP00000507705.1:n.*2395G>T
ENST00000684571.1:c.4024G>T	ENSP00000506935.1:p.Val1342Leu
ENST00000684593.1:c.*3888G>T	ENSP00000507005.1:n.*3888G>T
ENST00000684711.1:c.*2579G>T	ENSP00000506841.1:n.*2579G>T
ENST00000302539.9:c.4186G>T	ENSP00000303960.4:p.Val1396Leu
ENST00000389817.8:c.4183G>T MANE Select	ENSP00000374467.4:p.Val1395Leu
ENST00000642271.1:c.4180G>T	ENSP00000493749.1:p.Val1394Leu
ENST00000642579.1:c.2237G>T
ENST00000642611.1:n.5268G>T
ENST00000642902.1:c.3965G>T
ENST00000643260.1:c.4183G>T	ENSP00000494450.1:p.Val1395Leu
ENST00000643562.1:c.*2305G>T	ENSP00000496124.1:n.*2305G>T
ENST00000643925.1:c.2823G>T
ENST00000644057.1:n.260G>T
ENST00000644484.1:c.*3569G>T	ENSP00000493558.1:n.*3569G>T
ENST00000644675.1:c.*2355G>T	ENSP00000494567.1:n.*2355G>T
ENST00000644757.1:c.*3202+397G>T	ENSP00000495085.1:n.*3202+397G>T
ENST00000644772.1:c.4249G>T	ENSP00000494321.1:p.Val1417Leu
ENST00000645004.1:n.1876G>T
ENST00000645076.1:c.3382G>T
ENST00000645417.1:c.1371G>T
ENST00000645744.1:c.*3948G>T	ENSP00000494564.1:n.*3948G>T
ENST00000645760.1:c.4604G>T
ENST00000645884.1:c.*1466G>T	ENSP00000495516.1:n.*1466G>T
ENST00000646003.1:c.*2285G>T	ENSP00000495259.1:n.*2285G>T
ENST00000646207.1:c.*3020G>T	ENSP00000495025.1:n.*3020G>T
ENST00000646276.1:c.*3587G>T	ENSP00000496070.1:n.*3587G>T
ENST00000646592.1:c.3489G>T
ENST00000646902.1:c.4150G>T	ENSP00000494101.1:p.Val1384Leu
ENST00000646993.1:c.*2725G>T	ENSP00000493720.1:n.*2725G>T
ENST00000647013.1:c.4189G>T	ENSP00000496741.1:n.4189G>T
ENST00000647015.1:c.3934G>T	ENSP00000495389.1:p.Val1312Leu
ENST00000647086.1:c.*3769G>T	ENSP00000493677.1:n.*3769G>T
ENST00000647158.1:c.*2470G>T	ENSP00000495744.1:n.*2470G>T
ENST00000302539.8:c.4186G>T	ENSP00000303960.4:p.Val1396Leu
ENST00000389817.7:c.4183G>T	ENSP00000374467.3:p.Val1395Leu
ENST00000525022.1:n.49G>T
ENST00000526168.5:c.51G>T
ENST00000531642.5:c.19G>T
NM_000352.4:c.4183G>T	NP_000343.2:p.Val1395Leu
NM_001287174.1:c.4186G>T	NP_001274103.1:p.Val1396Leu
XM_011520331.1:c.4183G>T	XP_011518633.1:p.Val1395Leu
XM_011520332.1:c.4186G>T	XP_011518634.1:p.Val1396Leu
XM_011520333.1:c.2683G>T	XP_011518635.1:p.Val895Leu
XR_930890.1:n.4249G>T
NM_001351295.1:c.4249G>T	NP_001338224.1:p.Val1417Leu
NM_001351296.1:c.4183G>T	NP_001338225.1:p.Val1395Leu
NM_001351297.1:c.4180G>T	NP_001338226.1:p.Val1394Leu
NR_147094.1:n.4478G>T
XM_017018197.2:c.4252G>T	XP_016873686.1:p.Val1418Leu
XM_017018199.1:c.4249G>T	XP_016873688.1:p.Val1417Leu
XM_017018201.2:c.4252G>T	XP_016873690.1:p.Val1418Leu
XM_017018202.1:c.2749G>T	XP_016873691.1:p.Val917Leu
XM_017018204.1:c.2140G>T	XP_016873693.1:p.Val714Leu
XM_024448668.1:c.2551G>T	XP_024304436.1:p.Val851Leu
XR_001747945.2:n.4324G>T
XR_001747946.2:n.4255G>T
XR_002957189.1:n.5905G>T
NM_000352.6:c.4183G>T MANE Select	NP_000343.2:p.Val1395Leu
NM_001287174.2:c.4186G>T	NP_001274103.1:p.Val1396Leu
NM_001351295.2:c.4249G>T	NP_001338224.1:p.Val1417Leu
NM_001351296.2:c.4183G>T	NP_001338225.1:p.Val1395Leu
NM_001351297.2:c.4180G>T	NP_001338226.1:p.Val1394Leu
NR_147094.2:n.4478G>T
NM_001287174.3:c.4186G>T	NP_001274103.1:p.Val1396Leu