Canonical Allele Identifier: CA005807
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14427
dbSNP Id: rs121912507

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951511C>T , CM000669.2:g.150951511C>T GRCh38
NC_000007.13:g.150648599C>T , CM000669.1:g.150648599C>T GRCh37
NC_000007.12:g.150279532C>T NCBI36
NG_008916.1:g.31416G>A , LRG_288:g.31416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1180G>A
ENST00000683359.1:n.6G>A
ENST00000684241.1:n.2715G>A
ENST00000262186.10:c.1882G>A MANE Select ENSP00000262186.5:p.Gly628Ser
ENST00000330883.9:c.862G>A ENSP00000328531.4:p.Gly288Ser
ENST00000262186.9:c.1882G>A ENSP00000262186.5:p.Gly628Ser
ENST00000330883.8:c.862G>A ENSP00000328531.4:p.Gly288Ser
ENST00000430723.4:c.1534G>A ENSP00000387657.4:p.Gly512Ser
ENST00000461280.1:n.1169G>A
ENST00000473610.5:n.1187G>A
ENST00000532957.5:n.2105G>A
NM_000238.3:c.1882G>A , LRG_288t1:c.1882G>A NP_000229.1:p.Gly628Ser
NM_001204798.1:c.862G>A NP_001191727.1:p.Gly288Ser
NM_172056.2:c.1882G>A , LRG_288t2:c.1882G>A NP_742053.1:p.Gly628Ser
NM_172057.2:c.862G>A , LRG_288t3:c.862G>A NP_742054.1:p.Gly288Ser
XM_011516185.1:c.1582G>A XP_011514487.1:p.Gly528Ser
XM_011516186.1:c.1882G>A XP_011514488.1:p.Gly628Ser
XM_011516185.2:c.1582G>A XP_011514487.1:p.Gly528Ser
XM_011516186.3:c.1882G>A XP_011514488.1:p.Gly628Ser
XM_017012195.1:c.1732G>A XP_016867684.1:p.Gly578Ser
XM_017012196.1:c.1705G>A XP_016867685.1:p.Gly569Ser
NM_000238.4:c.1882G>A MANE Select NP_000229.1:p.Gly628Ser
NM_001204798.2:c.862G>A NP_001191727.1:p.Gly288Ser
NM_172057.3:c.862G>A NP_742054.1:p.Gly288Ser