Canonical Allele Identifier: CA006010
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200751
dbSNP Id: rs199473529

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951475A>G , CM000669.2:g.150951475A>G GRCh38
NC_000007.13:g.150648563A>G , CM000669.1:g.150648563A>G GRCh37
NC_000007.12:g.150279496A>G NCBI36
NG_008916.1:g.31452T>C , LRG_288:g.31452T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1216T>C
ENST00000683359.1:n.42T>C
ENST00000684241.1:n.2751T>C
ENST00000262186.10:c.1918T>C MANE Select ENSP00000262186.5:p.Phe640Leu
ENST00000330883.9:c.898T>C ENSP00000328531.4:p.Phe300Leu
ENST00000262186.9:c.1918T>C ENSP00000262186.5:p.Phe640Leu
ENST00000330883.8:c.898T>C ENSP00000328531.4:p.Phe300Leu
ENST00000430723.4:c.1570T>C ENSP00000387657.4:p.Phe524Leu
ENST00000461280.1:n.1205T>C
ENST00000473610.5:n.1223T>C
ENST00000532957.5:n.2141T>C
NM_000238.3:c.1918T>C , LRG_288t1:c.1918T>C NP_000229.1:p.Phe640Leu
NM_001204798.1:c.898T>C NP_001191727.1:p.Phe300Leu
NM_172056.2:c.1918T>C , LRG_288t2:c.1918T>C NP_742053.1:p.Phe640Leu
NM_172057.2:c.898T>C , LRG_288t3:c.898T>C NP_742054.1:p.Phe300Leu
XM_011516185.1:c.1618T>C XP_011514487.1:p.Phe540Leu
XM_011516186.1:c.1918T>C XP_011514488.1:p.Phe640Leu
XM_011516185.2:c.1618T>C XP_011514487.1:p.Phe540Leu
XM_011516186.3:c.1918T>C XP_011514488.1:p.Phe640Leu
XM_017012195.1:c.1768T>C XP_016867684.1:p.Phe590Leu
XM_017012196.1:c.1741T>C XP_016867685.1:p.Phe581Leu
NM_000238.4:c.1918T>C MANE Select NP_000229.1:p.Phe640Leu
NM_001204798.2:c.898T>C NP_001191727.1:p.Phe300Leu
NM_172057.3:c.898T>C NP_742054.1:p.Phe300Leu