Canonical Allele Identifier: CA473298243

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395669-G-A
• MyVariant Identifiers: chr11:g.17417216G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395669G>A , CM000673.2:g.17395669G>A	GRCh38
NC_000011.9:g.17417216G>A , CM000673.1:g.17417216G>A	GRCh37
NC_000011.8:g.17373792G>A	NCBI36
NG_008867.1:g.86234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3849C>T
ENST00000528374.2:c.839C>T
ENST00000529967.6:n.2587C>T
ENST00000532220.2:n.3481C>T
ENST00000642611.2:n.5581C>T
ENST00000644057.2:n.824C>T
ENST00000645004.2:n.1747C>T
ENST00000682051.1:n.4410C>T
ENST00000682110.1:n.4463C>T
ENST00000682140.1:c.*34C>T	ENSP00000507829.1:n.*34C>T
ENST00000682185.1:n.5553C>T
ENST00000682204.1:c.*2386C>T	ENSP00000507094.1:n.*2386C>T
ENST00000682215.1:n.4830C>T
ENST00000682288.1:c.*2679C>T	ENSP00000507506.1:n.*2679C>T
ENST00000682442.1:n.4683C>T
ENST00000682528.1:n.4540C>T
ENST00000682673.1:n.4407C>T
ENST00000682805.1:n.4868C>T
ENST00000682965.1:c.*670C>T	ENSP00000508229.1:n.*670C>T
ENST00000683093.1:n.5547C>T
ENST00000683136.1:c.4131C>T	ENSP00000507768.1:p.Thr1377=
ENST00000683153.1:n.4505C>T
ENST00000683365.1:n.4565C>T
ENST00000683377.1:n.4463C>T
ENST00000683456.1:c.*1385C>T	ENSP00000508318.1:n.*1385C>T
ENST00000683522.1:n.4463C>T
ENST00000683562.1:c.*2417C>T	ENSP00000508265.1:n.*2417C>T
ENST00000683693.1:n.6028C>T
ENST00000683725.1:c.4248C>T	ENSP00000507496.1:p.Thr1416=
ENST00000684010.1:n.4458C>T
ENST00000684157.1:n.5448C>T
ENST00000684253.1:n.4366C>T
ENST00000684288.1:c.*2420C>T	ENSP00000507143.1:n.*2420C>T
ENST00000684313.1:n.3895C>T
ENST00000684332.1:n.4536C>T
ENST00000684371.1:n.4569C>T
ENST00000684404.1:n.5491C>T
ENST00000684442.1:n.4687C>T
ENST00000684555.1:c.*2460C>T	ENSP00000507705.1:n.*2460C>T
ENST00000684571.1:c.4089C>T	ENSP00000506935.1:p.Thr1363=
ENST00000684593.1:c.*3953C>T	ENSP00000507005.1:n.*3953C>T
ENST00000684711.1:c.*2644C>T	ENSP00000506841.1:n.*2644C>T
ENST00000302539.9:c.4251C>T	ENSP00000303960.4:p.Thr1417=
ENST00000389817.8:c.4248C>T MANE Select	ENSP00000374467.4:p.Thr1416=
ENST00000642271.1:c.4245C>T	ENSP00000493749.1:p.Thr1415=
ENST00000642579.1:c.2302C>T
ENST00000642611.1:n.5466C>T
ENST00000642902.1:c.4030C>T
ENST00000643260.1:c.4248C>T	ENSP00000494450.1:p.Thr1416=
ENST00000643562.1:c.*2370C>T	ENSP00000496124.1:n.*2370C>T
ENST00000643925.1:c.2888C>T
ENST00000644057.1:n.325C>T
ENST00000644484.1:c.*3634C>T	ENSP00000493558.1:n.*3634C>T
ENST00000644675.1:c.*2420C>T	ENSP00000494567.1:n.*2420C>T
ENST00000644757.1:c.*3202+595C>T	ENSP00000495085.1:n.*3202+595C>T
ENST00000644772.1:c.4314C>T	ENSP00000494321.1:p.Thr1438=
ENST00000645004.1:n.1941C>T
ENST00000645076.1:c.3447C>T
ENST00000645417.1:c.1436C>T
ENST00000645744.1:c.*3964-31C>T	ENSP00000494564.1:n.*3964-31C>T
ENST00000645760.1:c.4669C>T
ENST00000645884.1:c.*1531C>T	ENSP00000495516.1:n.*1531C>T
ENST00000646003.1:c.*2301-31C>T	ENSP00000495259.1:n.*2301-31C>T
ENST00000646207.1:c.*3085C>T	ENSP00000495025.1:n.*3085C>T
ENST00000646276.1:c.*3652C>T	ENSP00000496070.1:n.*3652C>T
ENST00000646592.1:c.3554C>T
ENST00000646902.1:c.4215C>T	ENSP00000494101.1:p.Thr1405=
ENST00000646993.1:c.*2790C>T	ENSP00000493720.1:n.*2790C>T
ENST00000647013.1:c.4254C>T	ENSP00000496741.1:n.4254C>T
ENST00000647015.1:c.3999C>T	ENSP00000495389.1:p.Thr1333=
ENST00000647086.1:c.*3834C>T	ENSP00000493677.1:n.*3834C>T
ENST00000647158.1:c.*2535C>T	ENSP00000495744.1:n.*2535C>T
ENST00000302539.8:c.4251C>T	ENSP00000303960.4:p.Thr1417=
ENST00000389817.7:c.4248C>T	ENSP00000374467.3:p.Thr1416=
ENST00000525022.1:n.247C>T
ENST00000526037.5:n.112C>T
ENST00000526168.5:c.67-31C>T
ENST00000531642.5:c.84C>T
NM_000352.4:c.4248C>T	NP_000343.2:p.Thr1416=
NM_001287174.1:c.4251C>T	NP_001274103.1:p.Thr1417=
XM_011520331.1:c.4248C>T	XP_011518633.1:p.Thr1416=
XM_011520332.1:c.4251C>T	XP_011518634.1:p.Thr1417=
XM_011520333.1:c.2748C>T	XP_011518635.1:p.Thr916=
XR_930890.1:n.4314C>T
NM_001351295.1:c.4314C>T	NP_001338224.1:p.Thr1438=
NM_001351296.1:c.4248C>T	NP_001338225.1:p.Thr1416=
NM_001351297.1:c.4245C>T	NP_001338226.1:p.Thr1415=
NR_147094.1:n.4543C>T
XM_017018197.2:c.4317C>T	XP_016873686.1:p.Thr1439=
XM_017018199.1:c.4314C>T	XP_016873688.1:p.Thr1438=
XM_017018201.2:c.4317C>T	XP_016873690.1:p.Thr1439=
XM_017018202.1:c.2814C>T	XP_016873691.1:p.Thr938=
XM_017018204.1:c.2205C>T	XP_016873693.1:p.Thr735=
XM_024448668.1:c.2616C>T	XP_024304436.1:p.Thr872=
XR_001747945.2:n.4389C>T
XR_001747946.2:n.4320C>T
XR_002957189.1:n.6103C>T
NM_000352.6:c.4248C>T MANE Select	NP_000343.2:p.Thr1416=
NM_001287174.2:c.4251C>T	NP_001274103.1:p.Thr1417=
NM_001351295.2:c.4314C>T	NP_001338224.1:p.Thr1438=
NM_001351296.2:c.4248C>T	NP_001338225.1:p.Thr1416=
NM_001351297.2:c.4245C>T	NP_001338226.1:p.Thr1415=
NR_147094.2:n.4543C>T
NM_001287174.3:c.4251C>T	NP_001274103.1:p.Thr1417=