Canonical Allele Identifier: CA031879
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 940061
dbSNP Id: rs143335921

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950180C>A , CM000669.2:g.150950180C>A GRCh38
NC_000007.13:g.150647268C>A , CM000669.1:g.150647268C>A GRCh37
NC_000007.12:g.150278201C>A NCBI36
NG_008916.1:g.32747G>T , LRG_288:g.32747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1684G>T
ENST00000684241.1:n.3219G>T
ENST00000262186.10:c.2386G>T MANE Select ENSP00000262186.5:p.Val796Leu
ENST00000330883.9:c.1366G>T ENSP00000328531.4:p.Val456Leu
ENST00000262186.9:c.2386G>T ENSP00000262186.5:p.Val796Leu
ENST00000330883.8:c.1366G>T ENSP00000328531.4:p.Val456Leu
ENST00000430723.4:c.2038G>T ENSP00000387657.4:p.Val680Leu
ENST00000461280.1:n.1673G>T
ENST00000473610.5:n.2018G>T
ENST00000532957.5:n.2609G>T
NM_000238.3:c.2386G>T , LRG_288t1:c.2386G>T NP_000229.1:p.Val796Leu
NM_001204798.1:c.1366G>T NP_001191727.1:p.Val456Leu
NM_172056.2:c.2386G>T , LRG_288t2:c.2386G>T NP_742053.1:p.Val796Leu
NM_172057.2:c.1366G>T , LRG_288t3:c.1366G>T NP_742054.1:p.Val456Leu
XM_011516185.1:c.2086G>T XP_011514487.1:p.Val696Leu
XM_011516186.1:c.2386G>T XP_011514488.1:p.Val796Leu
XM_011516185.2:c.2086G>T XP_011514487.1:p.Val696Leu
XM_011516186.3:c.2386G>T XP_011514488.1:p.Val796Leu
XM_017012195.1:c.2236G>T XP_016867684.1:p.Val746Leu
XM_017012196.1:c.2209G>T XP_016867685.1:p.Val737Leu
NM_000238.4:c.2386G>T MANE Select NP_000229.1:p.Val796Leu
NM_001204798.2:c.1366G>T NP_001191727.1:p.Val456Leu
NM_172057.3:c.1366G>T NP_742054.1:p.Val456Leu