Canonical Allele Identifier: CA034686
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216327
dbSNP Id: rs776097223

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947832C>T , CM000669.2:g.150947832C>T GRCh38
NC_000007.13:g.150644920C>T , CM000669.1:g.150644920C>T GRCh37
NC_000007.12:g.150275853C>T NCBI36
NG_008916.1:g.35095G>A , LRG_288:g.35095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3572G>A
ENST00000262186.10:c.2739G>A MANE Select ENSP00000262186.5:p.Ala913=
ENST00000330883.9:c.1719G>A ENSP00000328531.4:p.Ala573=
ENST00000262186.9:c.2739G>A ENSP00000262186.5:p.Ala913=
ENST00000330883.8:c.1719G>A ENSP00000328531.4:p.Ala573=
NM_000238.3:c.2739G>A , LRG_288t1:c.2739G>A NP_000229.1:p.Ala913=
NM_172057.2:c.1719G>A , LRG_288t3:c.1719G>A NP_742054.1:p.Ala573=
XM_011516185.1:c.2439G>A XP_011514487.1:p.Ala813=
XM_011516186.1:c.2693-141G>A XP_011514488.1:n.2693-141G>A
XM_011516185.2:c.2439G>A XP_011514487.1:p.Ala813=
XM_011516186.3:c.2693-141G>A XP_011514488.1:n.2693-141G>A
XM_017012195.1:c.2589G>A XP_016867684.1:p.Ala863=
XM_017012196.1:c.2562G>A XP_016867685.1:p.Ala854=
NM_000238.4:c.2739G>A MANE Select NP_000229.1:p.Ala913=
NM_172057.3:c.1719G>A NP_742054.1:p.Ala573=