Canonical Allele Identifier: CA369856038

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2748625
• ClinVar RCV Id: RCV003531740
• COSMIC: COSM5557449 ; COSM5557450 ; COSM5557451
• MyVariant Identifiers: chr7:g.150647289T>A (hg19) ; chr7:g.150950201T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950201T>A , CM000669.2:g.150950201T>A	GRCh38
NC_000007.13:g.150647289T>A , CM000669.1:g.150647289T>A	GRCh37
NC_000007.12:g.150278222T>A	NCBI36
NG_008916.1:g.32726A>T , LRG_288:g.32726A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1663A>T
ENST00000684241.1:n.3198A>T
ENST00000262186.10:c.2365A>T MANE Select	ENSP00000262186.5:p.Ile789Phe
ENST00000330883.9:c.1345A>T	ENSP00000328531.4:p.Ile449Phe
ENST00000262186.9:c.2365A>T	ENSP00000262186.5:p.Ile789Phe
ENST00000330883.8:c.1345A>T	ENSP00000328531.4:p.Ile449Phe
ENST00000430723.4:c.2017A>T	ENSP00000387657.4:p.Ile673Phe
ENST00000461280.1:n.1652A>T
ENST00000473610.5:n.1997A>T
ENST00000532957.5:n.2588A>T
NM_000238.3:c.2365A>T , LRG_288t1:c.2365A>T	NP_000229.1:p.Ile789Phe
NM_001204798.1:c.1345A>T	NP_001191727.1:p.Ile449Phe
NM_172056.2:c.2365A>T , LRG_288t2:c.2365A>T	NP_742053.1:p.Ile789Phe
NM_172057.2:c.1345A>T , LRG_288t3:c.1345A>T	NP_742054.1:p.Ile449Phe
XM_011516185.1:c.2065A>T	XP_011514487.1:p.Ile689Phe
XM_011516186.1:c.2365A>T	XP_011514488.1:p.Ile789Phe
XM_011516185.2:c.2065A>T	XP_011514487.1:p.Ile689Phe
XM_011516186.3:c.2365A>T	XP_011514488.1:p.Ile789Phe
XM_017012195.1:c.2215A>T	XP_016867684.1:p.Ile739Phe
XM_017012196.1:c.2188A>T	XP_016867685.1:p.Ile730Phe
NM_000238.4:c.2365A>T MANE Select	NP_000229.1:p.Ile789Phe
NM_001204798.2:c.1345A>T	NP_001191727.1:p.Ile449Phe
NM_172057.3:c.1345A>T	NP_742054.1:p.Ile449Phe