Canonical Allele Identifier: CA379787653

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395851-C-A
• MyVariant Identifiers: chr11:g.17417398C>A (hg19) ; chr11:g.17395851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395851C>A , CM000673.2:g.17395851C>A	GRCh38
NC_000011.9:g.17417398C>A , CM000673.1:g.17417398C>A	GRCh37
NC_000011.8:g.17373974C>A	NCBI36
NG_008867.1:g.86052G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3799+1G>T
ENST00000528374.2:c.789+1G>T
ENST00000529967.6:n.2537+1G>T
ENST00000532220.2:n.3431+1G>T
ENST00000642611.2:n.5399G>T
ENST00000644057.2:n.642G>T
ENST00000645004.2:n.1697+1G>T
ENST00000682051.1:n.4360+1G>T
ENST00000682110.1:n.4413+1G>T
ENST00000682140.1:c.4064+1G>T	ENSP00000507829.1:n.4064+1G>T
ENST00000682185.1:n.5503+1G>T
ENST00000682204.1:c.*2336+1G>T	ENSP00000507094.1:n.*2336+1G>T
ENST00000682215.1:n.4780+1G>T
ENST00000682288.1:c.*2629+1G>T	ENSP00000507506.1:n.*2629+1G>T
ENST00000682442.1:n.4633+1G>T
ENST00000682528.1:n.4490+1G>T
ENST00000682673.1:n.4357+1G>T
ENST00000682805.1:n.4818+1G>T
ENST00000682965.1:c.*620+1G>T	ENSP00000508229.1:n.*620+1G>T
ENST00000683093.1:n.5497+1G>T
ENST00000683136.1:c.4081+1G>T	ENSP00000507768.1:n.4081+1G>T
ENST00000683153.1:n.4455+1G>T
ENST00000683365.1:n.4515+1G>T
ENST00000683377.1:n.4413+1G>T
ENST00000683456.1:c.*1335+1G>T	ENSP00000508318.1:n.*1335+1G>T
ENST00000683522.1:n.4413+1G>T
ENST00000683562.1:c.*2367+1G>T	ENSP00000508265.1:n.*2367+1G>T
ENST00000683693.1:n.5846G>T
ENST00000683725.1:c.4198+1G>T	ENSP00000507496.1:n.4198+1G>T
ENST00000684010.1:n.4408+1G>T
ENST00000684157.1:n.5398+1G>T
ENST00000684253.1:n.4316+1G>T
ENST00000684288.1:c.*2370+1G>T	ENSP00000507143.1:n.*2370+1G>T
ENST00000684313.1:n.3845+1G>T
ENST00000684332.1:n.4486+1G>T
ENST00000684371.1:n.4519+1G>T
ENST00000684404.1:n.5441+1G>T
ENST00000684442.1:n.4637+1G>T
ENST00000684555.1:c.*2410+1G>T	ENSP00000507705.1:n.*2410+1G>T
ENST00000684571.1:c.4039+1G>T	ENSP00000506935.1:n.4039+1G>T
ENST00000684593.1:c.*3903+1G>T	ENSP00000507005.1:n.*3903+1G>T
ENST00000684711.1:c.*2594+1G>T	ENSP00000506841.1:n.*2594+1G>T
ENST00000302539.9:c.4201+1G>T	ENSP00000303960.4:n.4201+1G>T
ENST00000389817.8:c.4198+1G>T MANE Select	ENSP00000374467.4:n.4198+1G>T
ENST00000642271.1:c.4195+1G>T	ENSP00000493749.1:n.4195+1G>T
ENST00000642579.1:c.2252+1G>T
ENST00000642611.1:n.5284G>T
ENST00000642902.1:c.3980+1G>T
ENST00000643260.1:c.4198+1G>T	ENSP00000494450.1:n.4198+1G>T
ENST00000643562.1:c.*2320+1G>T	ENSP00000496124.1:n.*2320+1G>T
ENST00000643925.1:c.2838+1G>T
ENST00000644057.1:n.275+1G>T
ENST00000644484.1:c.*3584+1G>T	ENSP00000493558.1:n.*3584+1G>T
ENST00000644675.1:c.*2370+1G>T	ENSP00000494567.1:n.*2370+1G>T
ENST00000644757.1:c.*3202+413G>T	ENSP00000495085.1:n.*3202+413G>T
ENST00000644772.1:c.4264+1G>T	ENSP00000494321.1:n.4264+1G>T
ENST00000645004.1:n.1891+1G>T
ENST00000645076.1:c.3397+1G>T
ENST00000645417.1:c.1386+1G>T
ENST00000645744.1:c.*3963+1G>T	ENSP00000494564.1:n.*3963+1G>T
ENST00000645760.1:c.4619+1G>T
ENST00000645884.1:c.*1481+1G>T	ENSP00000495516.1:n.*1481+1G>T
ENST00000646003.1:c.*2300+1G>T	ENSP00000495259.1:n.*2300+1G>T
ENST00000646207.1:c.*3035+1G>T	ENSP00000495025.1:n.*3035+1G>T
ENST00000646276.1:c.*3602+1G>T	ENSP00000496070.1:n.*3602+1G>T
ENST00000646592.1:c.3504+1G>T
ENST00000646902.1:c.4165+1G>T	ENSP00000494101.1:n.4165+1G>T
ENST00000646993.1:c.*2740+1G>T	ENSP00000493720.1:n.*2740+1G>T
ENST00000647013.1:c.4204+1G>T	ENSP00000496741.1:n.4204+1G>T
ENST00000647015.1:c.3949+1G>T	ENSP00000495389.1:n.3949+1G>T
ENST00000647086.1:c.*3784+1G>T	ENSP00000493677.1:n.*3784+1G>T
ENST00000647158.1:c.*2485+1G>T	ENSP00000495744.1:n.*2485+1G>T
ENST00000302539.8:c.4201+1G>T	ENSP00000303960.4:n.4201+1G>T
ENST00000389817.7:c.4198+1G>T	ENSP00000374467.3:n.4198+1G>T
ENST00000525022.1:n.65G>T
ENST00000526168.5:c.66+1G>T
ENST00000531642.5:c.34+1G>T
NM_000352.4:c.4198+1G>T	NP_000343.2:n.4198+1G>T
NM_001287174.1:c.4201+1G>T	NP_001274103.1:n.4201+1G>T
XM_011520331.1:c.4198+1G>T	XP_011518633.1:n.4198+1G>T
XM_011520332.1:c.4201+1G>T	XP_011518634.1:n.4201+1G>T
XM_011520333.1:c.2698+1G>T	XP_011518635.1:n.2698+1G>T
XR_930890.1:n.4264+1G>T
NM_001351295.1:c.4264+1G>T	NP_001338224.1:n.4264+1G>T
NM_001351296.1:c.4198+1G>T	NP_001338225.1:n.4198+1G>T
NM_001351297.1:c.4195+1G>T	NP_001338226.1:n.4195+1G>T
NR_147094.1:n.4493+1G>T
XM_017018197.2:c.4267+1G>T	XP_016873686.1:n.4267+1G>T
XM_017018199.1:c.4264+1G>T	XP_016873688.1:n.4264+1G>T
XM_017018201.2:c.4267+1G>T	XP_016873690.1:n.4267+1G>T
XM_017018202.1:c.2764+1G>T	XP_016873691.1:n.2764+1G>T
XM_017018204.1:c.2155+1G>T	XP_016873693.1:n.2155+1G>T
XM_024448668.1:c.2566+1G>T	XP_024304436.1:n.2566+1G>T
XR_001747945.2:n.4339+1G>T
XR_001747946.2:n.4270+1G>T
XR_002957189.1:n.5921G>T
NM_000352.6:c.4198+1G>T MANE Select	NP_000343.2:n.4198+1G>T
NM_001287174.2:c.4201+1G>T	NP_001274103.1:n.4201+1G>T
NM_001351295.2:c.4264+1G>T	NP_001338224.1:n.4264+1G>T
NM_001351296.2:c.4198+1G>T	NP_001338225.1:n.4198+1G>T
NM_001351297.2:c.4195+1G>T	NP_001338226.1:n.4195+1G>T
NR_147094.2:n.4493+1G>T
NM_001287174.3:c.4201+1G>T	NP_001274103.1:n.4201+1G>T