Canonical Allele Identifier: CA008553
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67509
dbSNP Id: rs36210422

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958449G>A , CM000669.2:g.150958449G>A GRCh38
NC_000007.13:g.150655537G>A , CM000669.1:g.150655537G>A GRCh37
NC_000007.12:g.150286470G>A NCBI36
NG_008916.1:g.24478C>T , LRG_288:g.24478C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1359C>T
ENST00000262186.10:c.526C>T MANE Select ENSP00000262186.5:p.Arg176Trp
ENST00000262186.9:c.526C>T ENSP00000262186.5:p.Arg176Trp
ENST00000430723.4:c.235-57C>T ENSP00000387657.4:n.235-57C>T
ENST00000532957.5:n.749C>T
NM_000238.3:c.526C>T , LRG_288t1:c.526C>T NP_000229.1:p.Arg176Trp
NM_172056.2:c.526C>T , LRG_288t2:c.526C>T NP_742053.1:p.Arg176Trp
XM_011516185.1:c.226C>T XP_011514487.1:p.Arg76Trp
XM_011516186.1:c.526C>T XP_011514488.1:p.Arg176Trp
XM_011516185.2:c.226C>T XP_011514487.1:p.Arg76Trp
XM_011516186.3:c.526C>T XP_011514488.1:p.Arg176Trp
XM_017012195.1:c.376C>T XP_016867684.1:p.Arg126Trp
XM_017012196.1:c.349C>T XP_016867685.1:p.Arg117Trp
NM_000238.4:c.526C>T MANE Select NP_000229.1:p.Arg176Trp