Canonical Allele Identifier: CA169081562
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs575268046

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958563C>A , CM000669.2:g.150958563C>A GRCh38
NC_000007.13:g.150655651C>A , CM000669.1:g.150655651C>A GRCh37
NC_000007.12:g.150286584C>A NCBI36
NG_008916.1:g.24364G>T , LRG_288:g.24364G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-61G>T
ENST00000262186.10:c.473-61G>T MANE Select ENSP00000262186.5:n.473-61G>T
ENST00000262186.9:c.473-61G>T ENSP00000262186.5:n.473-61G>T
ENST00000430723.4:c.235-171G>T ENSP00000387657.4:n.235-171G>T
ENST00000532957.5:n.696-61G>T
NM_000238.3:c.473-61G>T , LRG_288t1:c.473-61G>T NP_000229.1:n.473-61G>T
NM_172056.2:c.473-61G>T , LRG_288t2:c.473-61G>T NP_742053.1:n.473-61G>T
XM_011516185.1:c.173-61G>T XP_011514487.1:n.173-61G>T
XM_011516186.1:c.473-61G>T XP_011514488.1:n.473-61G>T
XM_011516185.2:c.173-61G>T XP_011514487.1:n.173-61G>T
XM_011516186.3:c.473-61G>T XP_011514488.1:n.473-61G>T
XM_017012195.1:c.323-61G>T XP_016867684.1:n.323-61G>T
XM_017012196.1:c.296-61G>T XP_016867685.1:n.296-61G>T
NM_000238.4:c.473-61G>T MANE Select NP_000229.1:n.473-61G>T