Canonical Allele Identifier: CA005426
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14436
dbSNP Id: rs104894021

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951629G>C , CM000669.2:g.150951629G>C GRCh38
NC_000007.13:g.150648717G>C , CM000669.1:g.150648717G>C GRCh37
NC_000007.12:g.150279650G>C NCBI36
NG_008916.1:g.31298C>G , LRG_288:g.31298C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1062C>G
ENST00000684241.1:n.2597C>G
ENST00000262186.10:c.1764C>G MANE Select ENSP00000262186.5:p.Asn588Lys
ENST00000330883.9:c.744C>G ENSP00000328531.4:p.Asn248Lys
ENST00000262186.9:c.1764C>G ENSP00000262186.5:p.Asn588Lys
ENST00000330883.8:c.744C>G ENSP00000328531.4:p.Asn248Lys
ENST00000430723.4:c.1416C>G ENSP00000387657.4:p.Asn472Lys
ENST00000461280.1:n.1051C>G
ENST00000473610.5:n.1069C>G
ENST00000532957.5:n.1987C>G
NM_000238.3:c.1764C>G , LRG_288t1:c.1764C>G NP_000229.1:p.Asn588Lys
NM_001204798.1:c.744C>G NP_001191727.1:p.Asn248Lys
NM_172056.2:c.1764C>G , LRG_288t2:c.1764C>G NP_742053.1:p.Asn588Lys
NM_172057.2:c.744C>G , LRG_288t3:c.744C>G NP_742054.1:p.Asn248Lys
XM_011516185.1:c.1464C>G XP_011514487.1:p.Asn488Lys
XM_011516186.1:c.1764C>G XP_011514488.1:p.Asn588Lys
XM_011516185.2:c.1464C>G XP_011514487.1:p.Asn488Lys
XM_011516186.3:c.1764C>G XP_011514488.1:p.Asn588Lys
XM_017012195.1:c.1614C>G XP_016867684.1:p.Asn538Lys
XM_017012196.1:c.1587C>G XP_016867685.1:p.Asn529Lys
NM_000238.4:c.1764C>G MANE Select NP_000229.1:p.Asn588Lys
NM_001204798.2:c.744C>G NP_001191727.1:p.Asn248Lys
NM_172057.3:c.744C>G NP_742054.1:p.Asn248Lys