Canonical Allele Identifier: CA004434

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67183
• ClinVar RCV Id: RCV000057890 ; RCV000481749 ; RCV001854190 ; RCV002381372
• dbSNP Id: rs199472900
• MyVariant Identifiers: chr7:g.150649777G>T (hg19) ; chr7:g.150952689G>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952689G>T , CM000669.2:g.150952689G>T	GRCh38
NC_000007.13:g.150649777G>T , CM000669.1:g.150649777G>T	GRCh37
NC_000007.12:g.150280710G>T	NCBI36
NG_008916.1:g.30238C>A , LRG_288:g.30238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.591C>A
ENST00000684116.1:n.186C>A
ENST00000684241.1:n.2126C>A
ENST00000262186.10:c.1293C>A MANE Select	ENSP00000262186.5:p.Phe431Leu
ENST00000330883.9:c.273C>A	ENSP00000328531.4:p.Phe91Leu
ENST00000262186.9:c.1293C>A	ENSP00000262186.5:p.Phe431Leu
ENST00000330883.8:c.273C>A	ENSP00000328531.4:p.Phe91Leu
ENST00000430723.4:c.945C>A	ENSP00000387657.4:p.Phe315Leu
ENST00000461280.1:n.580C>A
ENST00000473610.5:n.598C>A
ENST00000532957.5:n.1516C>A
NM_000238.3:c.1293C>A , LRG_288t1:c.1293C>A	NP_000229.1:p.Phe431Leu
NM_001204798.1:c.273C>A	NP_001191727.1:p.Phe91Leu
NM_172056.2:c.1293C>A , LRG_288t2:c.1293C>A	NP_742053.1:p.Phe431Leu
NM_172057.2:c.273C>A , LRG_288t3:c.273C>A	NP_742054.1:p.Phe91Leu
XM_011516185.1:c.993C>A	XP_011514487.1:p.Phe331Leu
XM_011516186.1:c.1293C>A	XP_011514488.1:p.Phe431Leu
XM_011516185.2:c.993C>A	XP_011514487.1:p.Phe331Leu
XM_011516186.3:c.1293C>A	XP_011514488.1:p.Phe431Leu
XM_017012195.1:c.1143C>A	XP_016867684.1:p.Phe381Leu
XM_017012196.1:c.1116C>A	XP_016867685.1:p.Phe372Leu
NM_000238.4:c.1293C>A MANE Select	NP_000229.1:p.Phe431Leu
NM_001204798.2:c.273C>A	NP_001191727.1:p.Phe91Leu
NM_172057.3:c.273C>A	NP_742054.1:p.Phe91Leu