Canonical Allele Identifier: CA369856063
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150950218-G-A
COSMIC: COSM1449214 COSM1449215 COSM4786292
MyVariant Identifiers: chr7:g.150647306G>A (hg19) chr7:g.150950218G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950218G>A , CM000669.2:g.150950218G>A GRCh38
NC_000007.13:g.150647306G>A , CM000669.1:g.150647306G>A GRCh37
NC_000007.12:g.150278239G>A NCBI36
NG_008916.1:g.32709C>T , LRG_288:g.32709C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1646C>T
ENST00000684241.1:n.3181C>T
ENST00000262186.10:c.2348C>T MANE Select ENSP00000262186.5:p.Ser783Phe
ENST00000330883.9:c.1328C>T ENSP00000328531.4:p.Ser443Phe
ENST00000262186.9:c.2348C>T ENSP00000262186.5:p.Ser783Phe
ENST00000330883.8:c.1328C>T ENSP00000328531.4:p.Ser443Phe
ENST00000430723.4:c.2000C>T ENSP00000387657.4:p.Ser667Phe
ENST00000461280.1:n.1635C>T
ENST00000473610.5:n.1980C>T
ENST00000532957.5:n.2571C>T
NM_000238.3:c.2348C>T , LRG_288t1:c.2348C>T NP_000229.1:p.Ser783Phe
NM_001204798.1:c.1328C>T NP_001191727.1:p.Ser443Phe
NM_172056.2:c.2348C>T , LRG_288t2:c.2348C>T NP_742053.1:p.Ser783Phe
NM_172057.2:c.1328C>T , LRG_288t3:c.1328C>T NP_742054.1:p.Ser443Phe
XM_011516185.1:c.2048C>T XP_011514487.1:p.Ser683Phe
XM_011516186.1:c.2348C>T XP_011514488.1:p.Ser783Phe
XM_011516185.2:c.2048C>T XP_011514487.1:p.Ser683Phe
XM_011516186.3:c.2348C>T XP_011514488.1:p.Ser783Phe
XM_017012195.1:c.2198C>T XP_016867684.1:p.Ser733Phe
XM_017012196.1:c.2171C>T XP_016867685.1:p.Ser724Phe
NM_000238.4:c.2348C>T MANE Select NP_000229.1:p.Ser783Phe
NM_001204798.2:c.1328C>T NP_001191727.1:p.Ser443Phe
NM_172057.3:c.1328C>T NP_742054.1:p.Ser443Phe
Search 100 bp 5'
Search 100 bp 3'