Canonical Allele Identifier: CA1752416561
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957274G= , CM000669.2:g.150957274G= GRCh38
NC_000007.13:g.150654362G= , CM000669.1:g.150654362G= GRCh37
NC_000007.12:g.150285295G= NCBI36
NG_008916.1:g.25653C= , LRG_288:g.25653C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1961+17C=
ENST00000262186.10:c.1128+17C= MANE Select ENSP00000262186.5:n.1128+17C=
ENST00000262186.9:c.1128+17C= ENSP00000262186.5:n.1128+17C=
ENST00000430723.4:c.780+17C= ENSP00000387657.4:n.780+17C=
ENST00000532957.5:n.1351+17C=
NM_000238.3:c.1128+17C= , LRG_288t1:c.1128+17C= NP_000229.1:n.1128+17C=
NM_172056.2:c.1128+17C= , LRG_288t2:c.1128+17C= NP_742053.1:n.1128+17C=
XM_011516185.1:c.828+17C= XP_011514487.1:n.828+17C=
XM_011516186.1:c.1128+17C= XP_011514488.1:n.1128+17C=
XM_011516185.2:c.828+17C= XP_011514487.1:n.828+17C=
XM_011516186.3:c.1128+17C= XP_011514488.1:n.1128+17C=
XM_017012195.1:c.978+17C= XP_016867684.1:n.978+17C=
XM_017012196.1:c.951+17C= XP_016867685.1:n.951+17C=
NM_000238.4:c.1128+17C= MANE Select NP_000229.1:n.1128+17C=