Canonical Allele Identifier: CA006035
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67337
dbSNP Id: rs199472971

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951471G>A , CM000669.2:g.150951471G>A GRCh38
NC_000007.13:g.150648559G>A , CM000669.1:g.150648559G>A GRCh37
NC_000007.12:g.150279492G>A NCBI36
NG_008916.1:g.31456C>T , LRG_288:g.31456C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1220C>T
ENST00000683359.1:n.46C>T
ENST00000684241.1:n.2755C>T
ENST00000262186.10:c.1922C>T MANE Select ENSP00000262186.5:p.Ser641Phe
ENST00000330883.9:c.902C>T ENSP00000328531.4:p.Ser301Phe
ENST00000262186.9:c.1922C>T ENSP00000262186.5:p.Ser641Phe
ENST00000330883.8:c.902C>T ENSP00000328531.4:p.Ser301Phe
ENST00000430723.4:c.1574C>T ENSP00000387657.4:p.Ser525Phe
ENST00000461280.1:n.1209C>T
ENST00000473610.5:n.1227C>T
ENST00000532957.5:n.2145C>T
NM_000238.3:c.1922C>T , LRG_288t1:c.1922C>T NP_000229.1:p.Ser641Phe
NM_001204798.1:c.902C>T NP_001191727.1:p.Ser301Phe
NM_172056.2:c.1922C>T , LRG_288t2:c.1922C>T NP_742053.1:p.Ser641Phe
NM_172057.2:c.902C>T , LRG_288t3:c.902C>T NP_742054.1:p.Ser301Phe
XM_011516185.1:c.1622C>T XP_011514487.1:p.Ser541Phe
XM_011516186.1:c.1922C>T XP_011514488.1:p.Ser641Phe
XM_011516185.2:c.1622C>T XP_011514487.1:p.Ser541Phe
XM_011516186.3:c.1922C>T XP_011514488.1:p.Ser641Phe
XM_017012195.1:c.1772C>T XP_016867684.1:p.Ser591Phe
XM_017012196.1:c.1745C>T XP_016867685.1:p.Ser582Phe
NM_000238.4:c.1922C>T MANE Select NP_000229.1:p.Ser641Phe
NM_001204798.2:c.902C>T NP_001191727.1:p.Ser301Phe
NM_172057.3:c.902C>T NP_742054.1:p.Ser301Phe