Canonical Allele Identifier: CA007537
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67445
dbSNP Id: rs199473012

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947708G>C , CM000669.2:g.150947708G>C GRCh38
NC_000007.13:g.150644796G>C , CM000669.1:g.150644796G>C GRCh37
NC_000007.12:g.150275729G>C NCBI36
NG_008916.1:g.35219C>G , LRG_288:g.35219C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.2863C>G MANE Select ENSP00000262186.5:p.Leu955Val
ENST00000330883.9:c.1843C>G ENSP00000328531.4:p.Leu615Val
ENST00000262186.9:c.2863C>G ENSP00000262186.5:p.Leu955Val
ENST00000330883.8:c.1843C>G ENSP00000328531.4:p.Leu615Val
NM_000238.3:c.2863C>G , LRG_288t1:c.2863C>G NP_000229.1:p.Leu955Val
NM_172057.2:c.1843C>G , LRG_288t3:c.1843C>G NP_742054.1:p.Leu615Val
XM_011516185.1:c.2563C>G XP_011514487.1:p.Leu855Val
XM_011516186.1:c.2693-17C>G XP_011514488.1:p.=
XM_011516185.2:c.2563C>G XP_011514487.1:p.Leu855Val
XM_011516186.3:c.2693-17C>G XP_011514488.1:p.=
XM_017012195.1:c.2713C>G XP_016867684.1:p.Leu905Val
XM_017012196.1:c.2686C>G XP_016867685.1:p.Leu896Val
NM_000238.4:c.2863C>G MANE Select NP_000229.1:p.Leu955Val
NM_172057.3:c.1843C>G NP_742054.1:p.Leu615Val