Canonical Allele Identifier: CA336005
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 215664
dbSNP Id: rs863224337

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958246G>A , CM000669.2:g.150958246G>A GRCh38
NC_000007.13:g.150655334G>A , CM000669.1:g.150655334G>A GRCh37
NC_000007.12:g.150286267G>A NCBI36
NG_008916.1:g.24681C>T , LRG_288:g.24681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1562C>T
ENST00000262186.10:c.729C>T MANE Select ENSP00000262186.5:p.Ser243=
ENST00000262186.9:c.729C>T ENSP00000262186.5:p.Ser243=
ENST00000430723.4:c.381C>T ENSP00000387657.4:p.Ser127=
ENST00000532957.5:n.952C>T
NM_000238.3:c.729C>T , LRG_288t1:c.729C>T NP_000229.1:p.Ser243=
NM_172056.2:c.729C>T , LRG_288t2:c.729C>T NP_742053.1:p.Ser243=
XM_011516185.1:c.429C>T XP_011514487.1:p.Ser143=
XM_011516186.1:c.729C>T XP_011514488.1:p.Ser243=
XM_011516185.2:c.429C>T XP_011514487.1:p.Ser143=
XM_011516186.3:c.729C>T XP_011514488.1:p.Ser243=
XM_017012195.1:c.579C>T XP_016867684.1:p.Ser193=
XM_017012196.1:c.552C>T XP_016867685.1:p.Ser184=
NM_000238.4:c.729C>T MANE Select NP_000229.1:p.Ser243=