Canonical Allele Identifier: CA2612638650

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395561-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395561A>G , CM000673.2:g.17395561A>G	GRCh38
NC_000011.9:g.17417108A>G , CM000673.1:g.17417108A>G	GRCh37
NC_000011.8:g.17373684A>G	NCBI36
NG_008867.1:g.86342T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3908+49T>C
ENST00000528374.2:c.898+49T>C
ENST00000529967.6:n.2646+49T>C
ENST00000532220.2:n.3540+49T>C
ENST00000642611.2:n.5640+49T>C
ENST00000644057.2:n.883+49T>C
ENST00000645004.2:n.1806+49T>C
ENST00000682051.1:n.4469+49T>C
ENST00000682110.1:n.4522+49T>C
ENST00000682140.1:c.*93+49T>C	ENSP00000507829.1:n.*93+49T>C
ENST00000682185.1:n.5612+49T>C
ENST00000682204.1:c.*2445+49T>C	ENSP00000507094.1:n.*2445+49T>C
ENST00000682215.1:n.4889+49T>C
ENST00000682288.1:c.*2738+49T>C	ENSP00000507506.1:n.*2738+49T>C
ENST00000682442.1:n.4742+49T>C
ENST00000682528.1:n.4599+49T>C
ENST00000682673.1:n.4466+49T>C
ENST00000682805.1:n.4927+49T>C
ENST00000682965.1:c.*729+49T>C	ENSP00000508229.1:n.*729+49T>C
ENST00000683093.1:n.5606+49T>C
ENST00000683136.1:c.4190+49T>C	ENSP00000507768.1:n.4190+49T>C
ENST00000683153.1:n.4564+49T>C
ENST00000683365.1:n.4624+49T>C
ENST00000683377.1:n.4522+49T>C
ENST00000683456.1:c.*1444+49T>C	ENSP00000508318.1:n.*1444+49T>C
ENST00000683522.1:n.4522+49T>C
ENST00000683562.1:c.*2476+49T>C	ENSP00000508265.1:n.*2476+49T>C
ENST00000683693.1:n.6087+49T>C
ENST00000683725.1:c.4307+49T>C	ENSP00000507496.1:n.4307+49T>C
ENST00000684010.1:n.4517+49T>C
ENST00000684157.1:n.5507+49T>C
ENST00000684253.1:n.4425+49T>C
ENST00000684288.1:c.*2479+49T>C	ENSP00000507143.1:n.*2479+49T>C
ENST00000684313.1:n.3954+49T>C
ENST00000684332.1:n.4595+49T>C
ENST00000684371.1:n.4628+49T>C
ENST00000684404.1:n.5550+49T>C
ENST00000684442.1:n.4746+49T>C
ENST00000684555.1:c.*2519+49T>C	ENSP00000507705.1:n.*2519+49T>C
ENST00000684571.1:c.4148+49T>C	ENSP00000506935.1:n.4148+49T>C
ENST00000684593.1:c.*4012+49T>C	ENSP00000507005.1:n.*4012+49T>C
ENST00000684711.1:c.*2703+49T>C	ENSP00000506841.1:n.*2703+49T>C
ENST00000302539.9:c.4310+49T>C	ENSP00000303960.4:n.4310+49T>C
ENST00000389817.8:c.4307+49T>C MANE Select	ENSP00000374467.4:n.4307+49T>C
ENST00000642271.1:c.4304+49T>C	ENSP00000493749.1:n.4304+49T>C
ENST00000642579.1:c.2361+49T>C
ENST00000642611.1:n.5525+49T>C
ENST00000642902.1:c.4089+49T>C
ENST00000643260.1:c.4307+49T>C	ENSP00000494450.1:n.4307+49T>C
ENST00000643562.1:c.*2429+49T>C	ENSP00000496124.1:n.*2429+49T>C
ENST00000643925.1:c.2947+49T>C
ENST00000644057.1:n.384+49T>C
ENST00000644484.1:c.*3693+49T>C	ENSP00000493558.1:n.*3693+49T>C
ENST00000644675.1:c.*2479+49T>C	ENSP00000494567.1:n.*2479+49T>C
ENST00000644757.1:c.*3202+703T>C	ENSP00000495085.1:n.*3202+703T>C
ENST00000644772.1:c.4373+49T>C	ENSP00000494321.1:n.4373+49T>C
ENST00000645004.1:n.2000+49T>C
ENST00000645076.1:c.3506+49T>C
ENST00000645417.1:c.1495+49T>C
ENST00000645744.1:c.*3992+49T>C	ENSP00000494564.1:n.*3992+49T>C
ENST00000645760.1:c.4728+49T>C
ENST00000645884.1:c.*1590+49T>C	ENSP00000495516.1:n.*1590+49T>C
ENST00000646003.1:c.*2329+49T>C	ENSP00000495259.1:n.*2329+49T>C
ENST00000646207.1:c.*3144+49T>C	ENSP00000495025.1:n.*3144+49T>C
ENST00000646276.1:c.*3711+49T>C	ENSP00000496070.1:n.*3711+49T>C
ENST00000646592.1:c.3613+49T>C
ENST00000646902.1:c.4274+49T>C	ENSP00000494101.1:n.4274+49T>C
ENST00000646993.1:c.*2849+49T>C	ENSP00000493720.1:n.*2849+49T>C
ENST00000647013.1:c.4313+49T>C	ENSP00000496741.1:n.4313+49T>C
ENST00000647015.1:c.4058+49T>C	ENSP00000495389.1:n.4058+49T>C
ENST00000647086.1:c.*3893+49T>C	ENSP00000493677.1:n.*3893+49T>C
ENST00000647158.1:c.*2594+49T>C	ENSP00000495744.1:n.*2594+49T>C
ENST00000302539.8:c.4310+49T>C	ENSP00000303960.4:n.4310+49T>C
ENST00000389817.7:c.4307+49T>C	ENSP00000374467.3:n.4307+49T>C
ENST00000525022.1:n.306+49T>C
ENST00000526037.5:n.171+49T>C
ENST00000526168.5:c.95+49T>C
ENST00000531642.5:c.143+49T>C
NM_000352.4:c.4307+49T>C	NP_000343.2:n.4307+49T>C
NM_001287174.1:c.4310+49T>C	NP_001274103.1:n.4310+49T>C
XM_011520331.1:c.4307+49T>C	XP_011518633.1:n.4307+49T>C
XM_011520332.1:c.4310+49T>C	XP_011518634.1:n.4310+49T>C
XM_011520333.1:c.2807+49T>C	XP_011518635.1:n.2807+49T>C
XR_930890.1:n.4373+49T>C
NM_001351295.1:c.4373+49T>C	NP_001338224.1:n.4373+49T>C
NM_001351296.1:c.4307+49T>C	NP_001338225.1:n.4307+49T>C
NM_001351297.1:c.4304+49T>C	NP_001338226.1:n.4304+49T>C
NR_147094.1:n.4602+49T>C
XM_017018197.2:c.4376+49T>C	XP_016873686.1:n.4376+49T>C
XM_017018199.1:c.4373+49T>C	XP_016873688.1:n.4373+49T>C
XM_017018201.2:c.4376+49T>C	XP_016873690.1:n.4376+49T>C
XM_017018202.1:c.2873+49T>C	XP_016873691.1:n.2873+49T>C
XM_017018204.1:c.2264+49T>C	XP_016873693.1:n.2264+49T>C
XM_024448668.1:c.2675+49T>C	XP_024304436.1:n.2675+49T>C
XR_001747945.2:n.4448+49T>C
XR_001747946.2:n.4379+49T>C
XR_002957189.1:n.6162+49T>C
NM_000352.6:c.4307+49T>C MANE Select	NP_000343.2:n.4307+49T>C
NM_001287174.2:c.4310+49T>C	NP_001274103.1:n.4310+49T>C
NM_001351295.2:c.4373+49T>C	NP_001338224.1:n.4373+49T>C
NM_001351296.2:c.4307+49T>C	NP_001338225.1:n.4307+49T>C
NM_001351297.2:c.4304+49T>C	NP_001338226.1:n.4304+49T>C
NR_147094.2:n.4602+49T>C
NM_001287174.3:c.4310+49T>C	NP_001274103.1:n.4310+49T>C