Canonical Allele Identifier: CA369853894
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948525A>T , CM000669.2:g.150948525A>T GRCh38
NC_000007.13:g.150645613A>T , CM000669.1:g.150645613A>T GRCh37
NC_000007.12:g.150276546A>T NCBI36
NG_008916.1:g.34402T>A , LRG_288:g.34402T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3444T>A
ENST00000262186.10:c.2611T>A MANE Select ENSP00000262186.5:p.Ser871Thr
ENST00000330883.9:c.1591T>A ENSP00000328531.4:p.Ser531Thr
ENST00000262186.9:c.2611T>A ENSP00000262186.5:p.Ser871Thr
ENST00000330883.8:c.1591T>A ENSP00000328531.4:p.Ser531Thr
NM_000238.3:c.2611T>A , LRG_288t1:c.2611T>A NP_000229.1:p.Ser871Thr
NM_172057.2:c.1591T>A , LRG_288t3:c.1591T>A NP_742054.1:p.Ser531Thr
XM_011516185.1:c.2311T>A XP_011514487.1:p.Ser771Thr
XM_011516186.1:c.2611T>A XP_011514488.1:p.Ser871Thr
XM_011516185.2:c.2311T>A XP_011514487.1:p.Ser771Thr
XM_011516186.3:c.2611T>A XP_011514488.1:p.Ser871Thr
XM_017012195.1:c.2461T>A XP_016867684.1:p.Ser821Thr
XM_017012196.1:c.2434T>A XP_016867685.1:p.Ser812Thr
NM_000238.4:c.2611T>A MANE Select NP_000229.1:p.Ser871Thr
NM_172057.3:c.1591T>A NP_742054.1:p.Ser531Thr