Canonical Allele Identifier: CA369857993
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2865252
ClinVar RCV Id: RCV003648620

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951564T>C , CM000669.2:g.150951564T>C GRCh38
NC_000007.13:g.150648652T>C , CM000669.1:g.150648652T>C GRCh37
NC_000007.12:g.150279585T>C NCBI36
NG_008916.1:g.31363A>G , LRG_288:g.31363A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1127A>G
ENST00000684241.1:n.2662A>G
ENST00000262186.10:c.1829A>G MANE Select ENSP00000262186.5:p.Lys610Arg
ENST00000330883.9:c.809A>G ENSP00000328531.4:p.Lys270Arg
ENST00000262186.9:c.1829A>G ENSP00000262186.5:p.Lys610Arg
ENST00000330883.8:c.809A>G ENSP00000328531.4:p.Lys270Arg
ENST00000430723.4:c.1481A>G ENSP00000387657.4:p.Lys494Arg
ENST00000461280.1:n.1116A>G
ENST00000473610.5:n.1134A>G
ENST00000532957.5:n.2052A>G
NM_000238.3:c.1829A>G , LRG_288t1:c.1829A>G NP_000229.1:p.Lys610Arg
NM_001204798.1:c.809A>G NP_001191727.1:p.Lys270Arg
NM_172056.2:c.1829A>G , LRG_288t2:c.1829A>G NP_742053.1:p.Lys610Arg
NM_172057.2:c.809A>G , LRG_288t3:c.809A>G NP_742054.1:p.Lys270Arg
XM_011516185.1:c.1529A>G XP_011514487.1:p.Lys510Arg
XM_011516186.1:c.1829A>G XP_011514488.1:p.Lys610Arg
XM_011516185.2:c.1529A>G XP_011514487.1:p.Lys510Arg
XM_011516186.3:c.1829A>G XP_011514488.1:p.Lys610Arg
XM_017012195.1:c.1679A>G XP_016867684.1:p.Lys560Arg
XM_017012196.1:c.1652A>G XP_016867685.1:p.Lys551Arg
NM_000238.4:c.1829A>G MANE Select NP_000229.1:p.Lys610Arg
NM_001204798.2:c.809A>G NP_001191727.1:p.Lys270Arg
NM_172057.3:c.809A>G NP_742054.1:p.Lys270Arg