Canonical Allele Identifier: CA1752431517
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948529C= , CM000669.2:g.150948529C= GRCh38
NC_000007.13:g.150645617C= , CM000669.1:g.150645617C= GRCh37
NC_000007.12:g.150276550C= NCBI36
NG_008916.1:g.34398G= , LRG_288:g.34398G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3440G=
ENST00000262186.10:c.2607G= MANE Select ENSP00000262186.5:p.Pro869=
ENST00000330883.9:c.1587G= ENSP00000328531.4:p.Pro529=
ENST00000262186.9:c.2607G= ENSP00000262186.5:p.Pro869=
ENST00000330883.8:c.1587G= ENSP00000328531.4:p.Pro529=
NM_000238.3:c.2607G= , LRG_288t1:c.2607G= NP_000229.1:p.Pro869=
NM_172057.2:c.1587G= , LRG_288t3:c.1587G= NP_742054.1:p.Pro529=
XM_011516185.1:c.2307G= XP_011514487.1:p.Pro769=
XM_011516186.1:c.2607G= XP_011514488.1:p.Pro869=
XM_011516185.2:c.2307G= XP_011514487.1:p.Pro769=
XM_011516186.3:c.2607G= XP_011514488.1:p.Pro869=
XM_017012195.1:c.2457G= XP_016867684.1:p.Pro819=
XM_017012196.1:c.2430G= XP_016867685.1:p.Pro810=
NM_000238.4:c.2607G= MANE Select NP_000229.1:p.Pro869=
NM_172057.3:c.1587G= NP_742054.1:p.Pro529=