Canonical Allele Identifier: CA1752430077
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947700G= , CM000669.2:g.150947700G= GRCh38
NC_000007.13:g.150644788G= , CM000669.1:g.150644788G= GRCh37
NC_000007.12:g.150275721G= NCBI36
NG_008916.1:g.35227C= , LRG_288:g.35227C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3704C=
ENST00000262186.10:c.2871C= MANE Select ENSP00000262186.5:p.Pro957=
ENST00000330883.9:c.1851C= ENSP00000328531.4:p.Pro617=
ENST00000262186.9:c.2871C= ENSP00000262186.5:p.Pro957=
ENST00000330883.8:c.1851C= ENSP00000328531.4:p.Pro617=
NM_000238.3:c.2871C= , LRG_288t1:c.2871C= NP_000229.1:p.Pro957=
NM_172057.2:c.1851C= , LRG_288t3:c.1851C= NP_742054.1:p.Pro617=
XM_011516185.1:c.2571C= XP_011514487.1:p.Pro857=
XM_011516186.1:c.2693-9C= XP_011514488.1:n.2693-9C=
XM_011516185.2:c.2571C= XP_011514487.1:p.Pro857=
XM_011516186.3:c.2693-9C= XP_011514488.1:n.2693-9C=
XM_017012195.1:c.2721C= XP_016867684.1:p.Pro907=
XM_017012196.1:c.2694C= XP_016867685.1:p.Pro898=
NM_000238.4:c.2871C= MANE Select NP_000229.1:p.Pro957=
NM_172057.3:c.1851C= NP_742054.1:p.Pro617=