Canonical Allele Identifier: CA1752417104
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957540G= , CM000669.2:g.150957540G= GRCh38
NC_000007.13:g.150654628G= , CM000669.1:g.150654628G= GRCh37
NC_000007.12:g.150285561G= NCBI36
NG_008916.1:g.25387C= , LRG_288:g.25387C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1750-38C=
ENST00000262186.10:c.917-38C= MANE Select ENSP00000262186.5:n.917-38C=
ENST00000262186.9:c.917-38C= ENSP00000262186.5:n.917-38C=
ENST00000430723.4:c.569-38C= ENSP00000387657.4:n.569-38C=
ENST00000532957.5:n.1140-38C=
NM_000238.3:c.917-38C= , LRG_288t1:c.917-38C= NP_000229.1:n.917-38C=
NM_172056.2:c.917-38C= , LRG_288t2:c.917-38C= NP_742053.1:n.917-38C=
XM_011516185.1:c.617-38C= XP_011514487.1:n.617-38C=
XM_011516186.1:c.917-38C= XP_011514488.1:n.917-38C=
XM_011516185.2:c.617-38C= XP_011514487.1:n.617-38C=
XM_011516186.3:c.917-38C= XP_011514488.1:n.917-38C=
XM_017012195.1:c.767-38C= XP_016867684.1:n.767-38C=
XM_017012196.1:c.740-38C= XP_016867685.1:n.740-38C=
NM_000238.4:c.917-38C= MANE Select NP_000229.1:n.917-38C=