Canonical Allele Identifier: CA006763
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14432
dbSNP Id: rs121912510

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948995G>A , CM000669.2:g.150948995G>A GRCh38
NC_000007.13:g.150646083G>A , CM000669.1:g.150646083G>A GRCh37
NC_000007.12:g.150277016G>A NCBI36
NG_008916.1:g.33932C>T , LRG_288:g.33932C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.9:c.2453C>T ENSP00000262186.5:p.Ser818Leu
ENST00000330883.8:c.1433C>T ENSP00000328531.4:p.Ser478Leu
NM_000238.3:c.2453C>T , LRG_288t1:c.2453C>T NP_000229.1:p.Ser818Leu
NM_172057.2:c.1433C>T , LRG_288t3:c.1433C>T NP_742054.1:p.Ser478Leu
XM_011516185.1:c.2153C>T XP_011514487.1:p.Ser718Leu
XM_011516186.1:c.2453C>T XP_011514488.1:p.Ser818Leu
XM_011516185.2:c.2153C>T XP_011514487.1:p.Ser718Leu
XM_011516186.3:c.2453C>T XP_011514488.1:p.Ser818Leu
XM_017012195.1:c.2303C>T XP_016867684.1:p.Ser768Leu
XM_017012196.1:c.2276C>T XP_016867685.1:p.Ser759Leu
NM_000238.4:c.2453C>T MANE Select NP_000229.1:p.Ser818Leu
NM_172057.3:c.1433C>T NP_742054.1:p.Ser478Leu