Canonical Allele Identifier: CA1752430083
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947703C= , CM000669.2:g.150947703C= GRCh38
NC_000007.13:g.150644791C= , CM000669.1:g.150644791C= GRCh37
NC_000007.12:g.150275724C= NCBI36
NG_008916.1:g.35224G= , LRG_288:g.35224G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3701G=
ENST00000262186.10:c.2868G= MANE Select ENSP00000262186.5:p.Val956=
ENST00000330883.9:c.1848G= ENSP00000328531.4:p.Val616=
ENST00000262186.9:c.2868G= ENSP00000262186.5:p.Val956=
ENST00000330883.8:c.1848G= ENSP00000328531.4:p.Val616=
NM_000238.3:c.2868G= , LRG_288t1:c.2868G= NP_000229.1:p.Val956=
NM_172057.2:c.1848G= , LRG_288t3:c.1848G= NP_742054.1:p.Val616=
XM_011516185.1:c.2568G= XP_011514487.1:p.Val856=
XM_011516186.1:c.2693-12G= XP_011514488.1:n.2693-12G=
XM_011516185.2:c.2568G= XP_011514487.1:p.Val856=
XM_011516186.3:c.2693-12G= XP_011514488.1:n.2693-12G=
XM_017012195.1:c.2718G= XP_016867684.1:p.Val906=
XM_017012196.1:c.2691G= XP_016867685.1:p.Val897=
NM_000238.4:c.2868G= MANE Select NP_000229.1:p.Val956=
NM_172057.3:c.1848G= NP_742054.1:p.Val616=