Canonical Allele Identifier: CA004184
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67163
dbSNP Id: rs138776684

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957380G>A , CM000669.2:g.150957380G>A GRCh38
NC_000007.13:g.150654468G>A , CM000669.1:g.150654468G>A GRCh37
NC_000007.12:g.150285401G>A NCBI36
NG_008916.1:g.25547C>T , LRG_288:g.25547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1872C>T
ENST00000262186.10:c.1039C>T MANE Select ENSP00000262186.5:p.Pro347Ser
ENST00000262186.9:c.1039C>T ENSP00000262186.5:p.Pro347Ser
ENST00000430723.4:c.691C>T ENSP00000387657.4:p.Pro231Ser
ENST00000532957.5:n.1262C>T
NM_000238.3:c.1039C>T , LRG_288t1:c.1039C>T NP_000229.1:p.Pro347Ser
NM_172056.2:c.1039C>T , LRG_288t2:c.1039C>T NP_742053.1:p.Pro347Ser
XM_011516185.1:c.739C>T XP_011514487.1:p.Pro247Ser
XM_011516186.1:c.1039C>T XP_011514488.1:p.Pro347Ser
XM_011516185.2:c.739C>T XP_011514487.1:p.Pro247Ser
XM_011516186.3:c.1039C>T XP_011514488.1:p.Pro347Ser
XM_017012195.1:c.889C>T XP_016867684.1:p.Pro297Ser
XM_017012196.1:c.862C>T XP_016867685.1:p.Pro288Ser
NM_000238.4:c.1039C>T MANE Select NP_000229.1:p.Pro347Ser