Canonical Allele Identifier: CA004878
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67219
ClinVar RCV Id: RCV000057928
dbSNP Id: rs199473515

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951801C>T , CM000669.2:g.150951801C>T GRCh38
NC_000007.13:g.150648889C>T , CM000669.1:g.150648889C>T GRCh37
NC_000007.12:g.150279822C>T NCBI36
NG_008916.1:g.31126G>A , LRG_288:g.31126G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.890G>A
ENST00000684116.1:n.485G>A
ENST00000684241.1:n.2425G>A
ENST00000262186.10:c.1592G>A MANE Select ENSP00000262186.5:p.Arg531Gln
ENST00000330883.9:c.572G>A ENSP00000328531.4:p.Arg191Gln
ENST00000262186.9:c.1592G>A ENSP00000262186.5:p.Arg531Gln
ENST00000330883.8:c.572G>A ENSP00000328531.4:p.Arg191Gln
ENST00000430723.4:c.1244G>A ENSP00000387657.4:p.Arg415Gln
ENST00000461280.1:n.879G>A
ENST00000473610.5:n.897G>A
ENST00000532957.5:n.1815G>A
NM_000238.3:c.1592G>A , LRG_288t1:c.1592G>A NP_000229.1:p.Arg531Gln
NM_001204798.1:c.572G>A NP_001191727.1:p.Arg191Gln
NM_172056.2:c.1592G>A , LRG_288t2:c.1592G>A NP_742053.1:p.Arg531Gln
NM_172057.2:c.572G>A , LRG_288t3:c.572G>A NP_742054.1:p.Arg191Gln
XM_011516185.1:c.1292G>A XP_011514487.1:p.Arg431Gln
XM_011516186.1:c.1592G>A XP_011514488.1:p.Arg531Gln
XM_011516185.2:c.1292G>A XP_011514487.1:p.Arg431Gln
XM_011516186.3:c.1592G>A XP_011514488.1:p.Arg531Gln
XM_017012195.1:c.1442G>A XP_016867684.1:p.Arg481Gln
XM_017012196.1:c.1415G>A XP_016867685.1:p.Arg472Gln
NM_000238.4:c.1592G>A MANE Select NP_000229.1:p.Arg531Gln
NM_001204798.2:c.572G>A NP_001191727.1:p.Arg191Gln
NM_172057.3:c.572G>A NP_742054.1:p.Arg191Gln