Canonical Allele Identifier: CA1752418058
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958196G= , CM000669.2:g.150958196G= GRCh38
NC_000007.13:g.150655284G= , CM000669.1:g.150655284G= GRCh37
NC_000007.12:g.150286217G= NCBI36
NG_008916.1:g.24731C= , LRG_288:g.24731C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1612C=
ENST00000262186.10:c.779C= MANE Select ENSP00000262186.5:p.Ala260=
ENST00000262186.9:c.779C= ENSP00000262186.5:p.Ala260=
ENST00000430723.4:c.431C= ENSP00000387657.4:p.Ala144=
ENST00000532957.5:n.1002C=
NM_000238.3:c.779C= , LRG_288t1:c.779C= NP_000229.1:p.Ala260=
NM_172056.2:c.779C= , LRG_288t2:c.779C= NP_742053.1:p.Ala260=
XM_011516185.1:c.479C= XP_011514487.1:p.Ala160=
XM_011516186.1:c.779C= XP_011514488.1:p.Ala260=
XM_011516185.2:c.479C= XP_011514487.1:p.Ala160=
XM_011516186.3:c.779C= XP_011514488.1:p.Ala260=
XM_017012195.1:c.629C= XP_016867684.1:p.Ala210=
XM_017012196.1:c.602C= XP_016867685.1:p.Ala201=
NM_000238.4:c.779C= MANE Select NP_000229.1:p.Ala260=