Canonical Allele Identifier: CA218406302

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 446778
• ClinVar RCV Id: RCV000516737 ; RCV000853271 ; RCV001829462 ; RCV002244992 ; RCV002244991
• dbSNP Id: rs796891223
• MyVariant Identifiers: chr11:g.17415261T>G (hg19) ; chr11:g.17393714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393714T>G , CM000673.2:g.17393714T>G	GRCh38
NC_000011.9:g.17415261T>G , CM000673.1:g.17415261T>G	GRCh37
NC_000011.8:g.17371837T>G	NCBI36
NG_008867.1:g.88189A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4192A>C
ENST00000526037.6:n.526A>C
ENST00000528374.2:c.1182A>C
ENST00000529967.6:n.2930A>C
ENST00000532220.2:n.3824A>C
ENST00000642611.2:n.5924A>C
ENST00000644057.2:n.1167A>C
ENST00000645004.2:n.2090A>C
ENST00000682051.1:n.4753A>C
ENST00000682110.1:n.4806A>C
ENST00000682140.1:c.*377A>C	ENSP00000507829.1:n.*377A>C
ENST00000682185.1:n.5896A>C
ENST00000682204.1:c.*2729A>C	ENSP00000507094.1:n.*2729A>C
ENST00000682215.1:n.5173A>C
ENST00000682288.1:c.*3022A>C	ENSP00000507506.1:n.*3022A>C
ENST00000682442.1:n.5026A>C
ENST00000682528.1:n.4883A>C
ENST00000682673.1:n.4750A>C
ENST00000682805.1:n.5211A>C
ENST00000682965.1:c.*1013A>C	ENSP00000508229.1:n.*1013A>C
ENST00000683093.1:n.5786A>C
ENST00000683136.1:c.4474A>C	ENSP00000507768.1:p.Thr1492Pro
ENST00000683153.1:n.4848A>C
ENST00000683365.1:n.4908A>C
ENST00000683377.1:n.4702A>C
ENST00000683456.1:c.*1728A>C	ENSP00000508318.1:n.*1728A>C
ENST00000683522.1:n.4888A>C
ENST00000683562.1:c.*2656A>C	ENSP00000508265.1:n.*2656A>C
ENST00000683693.1:n.6267A>C
ENST00000683725.1:c.*56A>C	ENSP00000507496.1:n.*56A>C
ENST00000684010.1:n.4801A>C
ENST00000684014.1:n.778A>C
ENST00000684157.1:n.5791A>C
ENST00000684253.1:n.4709A>C
ENST00000684288.1:c.*2763A>C	ENSP00000507143.1:n.*2763A>C
ENST00000684313.1:n.4238A>C
ENST00000684332.1:n.4879A>C
ENST00000684371.1:n.4912A>C
ENST00000684404.1:n.5834A>C
ENST00000684442.1:n.5030A>C
ENST00000684555.1:c.*2803A>C	ENSP00000507705.1:n.*2803A>C
ENST00000684571.1:c.4432A>C	ENSP00000506935.1:p.Thr1478Pro
ENST00000684593.1:c.*4296A>C	ENSP00000507005.1:n.*4296A>C
ENST00000684711.1:c.*2987A>C	ENSP00000506841.1:n.*2987A>C
ENST00000302539.9:c.4594A>C	ENSP00000303960.4:p.Thr1532Pro
ENST00000389817.8:c.4591A>C MANE Select	ENSP00000374467.4:p.Thr1531Pro
ENST00000642271.1:c.4588A>C	ENSP00000493749.1:p.Thr1530Pro
ENST00000642579.1:c.2645A>C
ENST00000642611.1:n.5809A>C
ENST00000642902.1:c.4373A>C
ENST00000643260.1:c.4591A>C	ENSP00000494450.1:p.Thr1531Pro
ENST00000643562.1:c.*2713A>C	ENSP00000496124.1:n.*2713A>C
ENST00000643925.1:c.3185+552A>C
ENST00000644057.1:n.750A>C
ENST00000644484.1:c.*3977A>C	ENSP00000493558.1:n.*3977A>C
ENST00000644675.1:c.*2763A>C	ENSP00000494567.1:n.*2763A>C
ENST00000644757.1:c.*3203-734A>C	ENSP00000495085.1:n.*3203-734A>C
ENST00000644772.1:c.4657A>C	ENSP00000494321.1:p.Thr1553Pro
ENST00000645004.1:n.2284A>C
ENST00000645076.1:c.3686A>C
ENST00000645417.1:c.1779A>C
ENST00000645744.1:c.*4276A>C	ENSP00000494564.1:n.*4276A>C
ENST00000645760.1:c.5012A>C
ENST00000645884.1:c.*1874A>C	ENSP00000495516.1:n.*1874A>C
ENST00000646003.1:c.*2613A>C	ENSP00000495259.1:n.*2613A>C
ENST00000646207.1:c.*3428A>C	ENSP00000495025.1:n.*3428A>C
ENST00000646276.1:c.*3995A>C	ENSP00000496070.1:n.*3995A>C
ENST00000646592.1:c.3897A>C
ENST00000646902.1:c.4558A>C	ENSP00000494101.1:p.Thr1520Pro
ENST00000646993.1:c.*3029A>C	ENSP00000493720.1:n.*3029A>C
ENST00000647015.1:c.4342A>C	ENSP00000495389.1:p.Thr1448Pro
ENST00000647086.1:c.*4177A>C	ENSP00000493677.1:n.*4177A>C
ENST00000647158.1:c.*2878A>C	ENSP00000495744.1:n.*2878A>C
ENST00000302539.8:c.4594A>C	ENSP00000303960.4:p.Thr1532Pro
ENST00000389817.7:c.4591A>C	ENSP00000374467.3:p.Thr1531Pro
ENST00000525022.1:n.486A>C
ENST00000526037.5:n.351A>C
ENST00000526168.5:c.379A>C
ENST00000531642.5:c.622A>C
NM_000352.4:c.4591A>C	NP_000343.2:p.Thr1531Pro
NM_001287174.1:c.4594A>C	NP_001274103.1:p.Thr1532Pro
XM_011520331.1:c.4591A>C	XP_011518633.1:p.Thr1531Pro
XM_011520333.1:c.3091A>C	XP_011518635.1:p.Thr1031Pro
XR_930890.1:n.4553A>C
NM_001351295.1:c.4657A>C	NP_001338224.1:p.Thr1553Pro
NM_001351296.1:c.4591A>C	NP_001338225.1:p.Thr1531Pro
NM_001351297.1:c.4588A>C	NP_001338226.1:p.Thr1530Pro
NR_147094.1:n.4886A>C
XM_017018197.2:c.4660A>C	XP_016873686.1:p.Thr1554Pro
XM_017018199.1:c.4657A>C	XP_016873688.1:p.Thr1553Pro
XM_017018202.1:c.3157A>C	XP_016873691.1:p.Thr1053Pro
XM_017018204.1:c.2548A>C	XP_016873693.1:p.Thr850Pro
XM_024448668.1:c.2959A>C	XP_024304436.1:p.Thr987Pro
XR_001747945.2:n.4628A>C
XR_001747946.2:n.4559A>C
XR_002957189.1:n.6342A>C
NM_000352.6:c.4591A>C MANE Select	NP_000343.2:p.Thr1531Pro
NM_001287174.2:c.4594A>C	NP_001274103.1:p.Thr1532Pro
NM_001351295.2:c.4657A>C	NP_001338224.1:p.Thr1553Pro
NM_001351296.2:c.4591A>C	NP_001338225.1:p.Thr1531Pro
NM_001351297.2:c.4588A>C	NP_001338226.1:p.Thr1530Pro
NR_147094.2:n.4886A>C
NM_001287174.3:c.4594A>C	NP_001274103.1:p.Thr1532Pro