Canonical Allele Identifier: CA034631
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 834753
dbSNP Id: rs752686806

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947852C>A , CM000669.2:g.150947852C>A GRCh38
NC_000007.13:g.150644940C>A , CM000669.1:g.150644940C>A GRCh37
NC_000007.12:g.150275873C>A NCBI36
NG_008916.1:g.35075G>T , LRG_288:g.35075G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3552G>T
ENST00000262186.10:c.2719G>T MANE Select ENSP00000262186.5:p.Ala907Ser
ENST00000330883.9:c.1699G>T ENSP00000328531.4:p.Ala567Ser
ENST00000262186.9:c.2719G>T ENSP00000262186.5:p.Ala907Ser
ENST00000330883.8:c.1699G>T ENSP00000328531.4:p.Ala567Ser
NM_000238.3:c.2719G>T , LRG_288t1:c.2719G>T NP_000229.1:p.Ala907Ser
NM_172057.2:c.1699G>T , LRG_288t3:c.1699G>T NP_742054.1:p.Ala567Ser
XM_011516185.1:c.2419G>T XP_011514487.1:p.Ala807Ser
XM_011516186.1:c.2693-161G>T XP_011514488.1:n.2693-161G>T
XM_011516185.2:c.2419G>T XP_011514487.1:p.Ala807Ser
XM_011516186.3:c.2693-161G>T XP_011514488.1:n.2693-161G>T
XM_017012195.1:c.2569G>T XP_016867684.1:p.Ala857Ser
XM_017012196.1:c.2542G>T XP_016867685.1:p.Ala848Ser
NM_000238.4:c.2719G>T MANE Select NP_000229.1:p.Ala907Ser
NM_172057.3:c.1699G>T NP_742054.1:p.Ala567Ser