Canonical Allele Identifier: CA5902484
Community Standard Title: NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395173G>A , CM000673.2:g.17395173G>A GRCh38
NC_000011.9:g.17416720G>A , CM000673.1:g.17416720G>A GRCh37
NC_000011.8:g.17373296G>A NCBI36
NG_008867.1:g.86730C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4410C>T MANE Select NP_000343.2:p.Leu1470=
ENST00000389817.8:c.4410C>T MANE Select ENSP00000374467.4:p.Leu1470=
NM_000352.4:c.4410C>T NP_000343.2:p.Leu1470=
NM_001287174.1:c.4413C>T NP_001274103.1:p.Leu1471=
NM_001287174.2:c.4413C>T NP_001274103.1:p.Leu1471=
NM_001287174.3:c.4413C>T NP_001274103.1:p.Leu1471=
NM_001351295.1:c.4476C>T NP_001338224.1:p.Leu1492=
NM_001351295.2:c.4476C>T NP_001338224.1:p.Leu1492=
NM_001351296.1:c.4410C>T NP_001338225.1:p.Leu1470=
NM_001351296.2:c.4410C>T NP_001338225.1:p.Leu1470=
NM_001351297.1:c.4407C>T NP_001338226.1:p.Leu1469=
NM_001351297.2:c.4407C>T NP_001338226.1:p.Leu1469=
NR_147094.1:n.4705C>T
NR_147094.2:n.4705C>T
ENST00000302539.8:c.4413C>T ENSP00000303960.4:p.Leu1471=
ENST00000302539.9:c.4413C>T ENSP00000303960.4:p.Leu1471=
ENST00000389817.7:c.4410C>T ENSP00000374467.3:p.Leu1470=
ENST00000524561.2:n.4011C>T
ENST00000525022.1:n.306+437C>T
ENST00000526037.5:n.171+437C>T
ENST00000526037.6:n.345C>T
ENST00000526168.5:c.198C>T
ENST00000528374.2:c.1001C>T
ENST00000529967.6:n.2749C>T
ENST00000531642.5:c.441C>T
ENST00000532220.2:n.3643C>T
ENST00000642271.1:c.4407C>T ENSP00000493749.1:p.Leu1469=
ENST00000642579.1:c.2464C>T
ENST00000642611.1:n.5628C>T
ENST00000642611.2:n.5743C>T
ENST00000642902.1:c.4192C>T
ENST00000643260.1:c.4410C>T ENSP00000494450.1:p.Leu1470=
ENST00000643562.1:c.*2532C>T ENSP00000496124.1:n.*2532C>T
ENST00000643925.1:c.3050C>T
ENST00000644057.1:n.487C>T
ENST00000644057.2:n.986C>T
ENST00000644484.1:c.*3796C>T ENSP00000493558.1:n.*3796C>T
ENST00000644675.1:c.*2582C>T ENSP00000494567.1:n.*2582C>T
ENST00000644757.1:c.*3202+1091C>T ENSP00000495085.1:n.*3202+1091C>T
ENST00000644772.1:c.4476C>T ENSP00000494321.1:p.Leu1492=
ENST00000645004.1:n.2103C>T
ENST00000645004.2:n.1909C>T
ENST00000645076.1:c.3506+437C>T
ENST00000645417.1:c.1598C>T
ENST00000645744.1:c.*4095C>T ENSP00000494564.1:n.*4095C>T
ENST00000645760.1:c.4831C>T
ENST00000645884.1:c.*1693C>T ENSP00000495516.1:n.*1693C>T
ENST00000646003.1:c.*2432C>T ENSP00000495259.1:n.*2432C>T
ENST00000646207.1:c.*3247C>T ENSP00000495025.1:n.*3247C>T
ENST00000646276.1:c.*3814C>T ENSP00000496070.1:n.*3814C>T
ENST00000646592.1:c.3716C>T
ENST00000646902.1:c.4377C>T ENSP00000494101.1:p.Leu1459=
ENST00000646993.1:c.*2849+437C>T ENSP00000493720.1:n.*2849+437C>T
ENST00000647013.1:c.4416C>T ENSP00000496741.1:n.4416C>T
ENST00000647015.1:c.4161C>T ENSP00000495389.1:p.Leu1387=
ENST00000647086.1:c.*3996C>T ENSP00000493677.1:n.*3996C>T
ENST00000647158.1:c.*2697C>T ENSP00000495744.1:n.*2697C>T
ENST00000682051.1:n.4572C>T
ENST00000682110.1:n.4625C>T
ENST00000682140.1:c.*196C>T ENSP00000507829.1:n.*196C>T
ENST00000682185.1:n.5715C>T
ENST00000682204.1:c.*2548C>T ENSP00000507094.1:n.*2548C>T
ENST00000682215.1:n.4992C>T
ENST00000682288.1:c.*2841C>T ENSP00000507506.1:n.*2841C>T
ENST00000682442.1:n.4845C>T
ENST00000682528.1:n.4702C>T
ENST00000682673.1:n.4569C>T
ENST00000682805.1:n.5030C>T
ENST00000682965.1:c.*832C>T ENSP00000508229.1:n.*832C>T
ENST00000683093.1:n.5606+437C>T
ENST00000683136.1:c.4293C>T ENSP00000507768.1:p.Leu1431=
ENST00000683153.1:n.4667C>T
ENST00000683365.1:n.4727C>T
ENST00000683377.1:n.4522+437C>T
ENST00000683456.1:c.*1547C>T ENSP00000508318.1:n.*1547C>T
ENST00000683522.1:n.4625C>T
ENST00000683562.1:c.*2476+437C>T ENSP00000508265.1:n.*2476+437C>T
ENST00000683693.1:n.6087+437C>T
ENST00000683725.1:c.4307+437C>T ENSP00000507496.1:n.4307+437C>T
ENST00000684010.1:n.4620C>T
ENST00000684157.1:n.5610C>T
ENST00000684253.1:n.4528C>T
ENST00000684288.1:c.*2582C>T ENSP00000507143.1:n.*2582C>T
ENST00000684313.1:n.4057C>T
ENST00000684332.1:n.4698C>T
ENST00000684371.1:n.4731C>T
ENST00000684404.1:n.5653C>T
ENST00000684442.1:n.4849C>T
ENST00000684555.1:c.*2622C>T ENSP00000507705.1:n.*2622C>T
ENST00000684571.1:c.4251C>T ENSP00000506935.1:p.Leu1417=
ENST00000684593.1:c.*4115C>T ENSP00000507005.1:n.*4115C>T
ENST00000684711.1:c.*2806C>T ENSP00000506841.1:n.*2806C>T
XM_011520331.1:c.4410C>T XP_011518633.1:p.Leu1470=
XM_011520332.1:c.4310+437C>T XP_011518634.1:n.4310+437C>T
XM_011520333.1:c.2910C>T XP_011518635.1:p.Leu970=
XM_017018197.2:c.4479C>T XP_016873686.1:p.Leu1493=
XM_017018199.1:c.4476C>T XP_016873688.1:p.Leu1492=
XM_017018201.2:c.4376+437C>T XP_016873690.1:n.4376+437C>T
XM_017018202.1:c.2976C>T XP_016873691.1:p.Leu992=
XM_017018204.1:c.2367C>T XP_016873693.1:p.Leu789=
XM_024448668.1:c.2778C>T XP_024304436.1:p.Leu926=
XR_001747945.2:n.4448+437C>T
XR_001747946.2:n.4379+437C>T
XR_002957189.1:n.6162+437C>T
XR_930890.1:n.4373+437C>T