Canonical Allele Identifier: CA008041
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36429
dbSNP Id: rs36210421

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947340C>A , CM000669.2:g.150947340C>A GRCh38
NC_000007.13:g.150644428C>A , CM000669.1:g.150644428C>A GRCh37
NC_000007.12:g.150275361C>A NCBI36
NG_008916.1:g.35587G>T , LRG_288:g.35587G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3973G>T
ENST00000262186.10:c.3140G>T MANE Select ENSP00000262186.5:p.Arg1047Leu
ENST00000330883.9:c.2120G>T ENSP00000328531.4:p.Arg707Leu
ENST00000262186.9:c.3140G>T ENSP00000262186.5:p.Arg1047Leu
ENST00000330883.8:c.2120G>T ENSP00000328531.4:p.Arg707Leu
NM_000238.3:c.3140G>T , LRG_288t1:c.3140G>T NP_000229.1:p.Arg1047Leu
NM_172057.2:c.2120G>T , LRG_288t3:c.2120G>T NP_742054.1:p.Arg707Leu
XM_011516185.1:c.2840G>T XP_011514487.1:p.Arg947Leu
XM_011516185.2:c.2840G>T XP_011514487.1:p.Arg947Leu
XM_017012195.1:c.2990G>T XP_016867684.1:p.Arg997Leu
XM_017012196.1:c.2963G>T XP_016867685.1:p.Arg988Leu
NM_000238.4:c.3140G>T MANE Select NP_000229.1:p.Arg1047Leu
NM_172057.3:c.2120G>T NP_742054.1:p.Arg707Leu