Canonical Allele Identifier: CA008431
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67504
dbSNP Id: rs199472864

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959622G>A , CM000669.2:g.150959622G>A GRCh38
NC_000007.13:g.150656710G>A , CM000669.1:g.150656710G>A GRCh37
NC_000007.12:g.150287643G>A NCBI36
NG_008916.1:g.23305C>T , LRG_288:g.23305C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1255C>T
ENST00000262186.10:c.422C>T MANE Select ENSP00000262186.5:p.Pro141Leu
ENST00000262186.9:c.422C>T ENSP00000262186.5:p.Pro141Leu
ENST00000430723.4:c.234+11C>T ENSP00000387657.4:n.234+11C>T
ENST00000532957.5:n.645C>T
NM_000238.3:c.422C>T , LRG_288t1:c.422C>T NP_000229.1:p.Pro141Leu
NM_172056.2:c.422C>T , LRG_288t2:c.422C>T NP_742053.1:p.Pro141Leu
XM_011516185.1:c.122C>T XP_011514487.1:p.Pro41Leu
XM_011516186.1:c.422C>T XP_011514488.1:p.Pro141Leu
XM_011516185.2:c.122C>T XP_011514487.1:p.Pro41Leu
XM_011516186.3:c.422C>T XP_011514488.1:p.Pro141Leu
XM_017012195.1:c.272C>T XP_016867684.1:p.Pro91Leu
XM_017012196.1:c.245C>T XP_016867685.1:p.Pro82Leu
NM_000238.4:c.422C>T MANE Select NP_000229.1:p.Pro141Leu