Canonical Allele Identifier: CA369853536
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 642118
ClinVar RCV Id: RCV000795514
dbSNP Id: rs794727044

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947860T>C , CM000669.2:g.150947860T>C GRCh38
NC_000007.13:g.150644948T>C , CM000669.1:g.150644948T>C GRCh37
NC_000007.12:g.150275881T>C NCBI36
NG_008916.1:g.35067A>G , LRG_288:g.35067A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3544A>G
ENST00000262186.10:c.2711A>G MANE Select ENSP00000262186.5:p.Glu904Gly
ENST00000330883.9:c.1691A>G ENSP00000328531.4:p.Glu564Gly
ENST00000262186.9:c.2711A>G ENSP00000262186.5:p.Glu904Gly
ENST00000330883.8:c.1691A>G ENSP00000328531.4:p.Glu564Gly
NM_000238.3:c.2711A>G , LRG_288t1:c.2711A>G NP_000229.1:p.Glu904Gly
NM_172057.2:c.1691A>G , LRG_288t3:c.1691A>G NP_742054.1:p.Glu564Gly
XM_011516185.1:c.2411A>G XP_011514487.1:p.Glu804Gly
XM_011516186.1:c.2693-169A>G XP_011514488.1:n.2693-169A>G
XM_011516185.2:c.2411A>G XP_011514487.1:p.Glu804Gly
XM_011516186.3:c.2693-169A>G XP_011514488.1:n.2693-169A>G
XM_017012195.1:c.2561A>G XP_016867684.1:p.Glu854Gly
XM_017012196.1:c.2534A>G XP_016867685.1:p.Glu845Gly
NM_000238.4:c.2711A>G MANE Select NP_000229.1:p.Glu904Gly
NM_172057.3:c.1691A>G NP_742054.1:p.Glu564Gly