Canonical Allele Identifier: CA007884
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200254
dbSNP Id: rs794728346

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947401G>T , CM000669.2:g.150947401G>T GRCh38
NC_000007.13:g.150644489G>T , CM000669.1:g.150644489G>T GRCh37
NC_000007.12:g.150275422G>T NCBI36
NG_008916.1:g.35526C>A , LRG_288:g.35526C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3912C>A
ENST00000262186.10:c.3079C>A MANE Select ENSP00000262186.5:p.Leu1027Ile
ENST00000330883.9:c.2059C>A ENSP00000328531.4:p.Leu687Ile
ENST00000262186.9:c.3079C>A ENSP00000262186.5:p.Leu1027Ile
ENST00000330883.8:c.2059C>A ENSP00000328531.4:p.Leu687Ile
NM_000238.3:c.3079C>A , LRG_288t1:c.3079C>A NP_000229.1:p.Leu1027Ile
NM_172057.2:c.2059C>A , LRG_288t3:c.2059C>A NP_742054.1:p.Leu687Ile
XM_011516185.1:c.2779C>A XP_011514487.1:p.Leu927Ile
XM_011516185.2:c.2779C>A XP_011514487.1:p.Leu927Ile
XM_017012195.1:c.2929C>A XP_016867684.1:p.Leu977Ile
XM_017012196.1:c.2902C>A XP_016867685.1:p.Leu968Ile
NM_000238.4:c.3079C>A MANE Select NP_000229.1:p.Leu1027Ile
NM_172057.3:c.2059C>A NP_742054.1:p.Leu687Ile