Canonical Allele Identifier: CA007286
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67432
dbSNP Id: rs76420733

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947821G>A , CM000669.2:g.150947821G>A GRCh38
NC_000007.13:g.150644909G>A , CM000669.1:g.150644909G>A GRCh37
NC_000007.12:g.150275842G>A NCBI36
NG_008916.1:g.35106C>T , LRG_288:g.35106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3583C>T
ENST00000262186.10:c.2750C>T MANE Select ENSP00000262186.5:p.Pro917Leu
ENST00000330883.9:c.1730C>T ENSP00000328531.4:p.Pro577Leu
ENST00000262186.9:c.2750C>T ENSP00000262186.5:p.Pro917Leu
ENST00000330883.8:c.1730C>T ENSP00000328531.4:p.Pro577Leu
NM_000238.3:c.2750C>T , LRG_288t1:c.2750C>T NP_000229.1:p.Pro917Leu
NM_172057.2:c.1730C>T , LRG_288t3:c.1730C>T NP_742054.1:p.Pro577Leu
XM_011516185.1:c.2450C>T XP_011514487.1:p.Pro817Leu
XM_011516186.1:c.2693-130C>T XP_011514488.1:n.2693-130C>T
XM_011516185.2:c.2450C>T XP_011514487.1:p.Pro817Leu
XM_011516186.3:c.2693-130C>T XP_011514488.1:n.2693-130C>T
XM_017012195.1:c.2600C>T XP_016867684.1:p.Pro867Leu
XM_017012196.1:c.2573C>T XP_016867685.1:p.Pro858Leu
NM_000238.4:c.2750C>T MANE Select NP_000229.1:p.Pro917Leu
NM_172057.3:c.1730C>T NP_742054.1:p.Pro577Leu