Canonical Allele Identifier: CA369860054

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519399
• ClinVar RCV Id: RCV000618256 ; RCV000631556
• dbSNP Id: rs1554426244
• MyVariant Identifiers: chr7:g.150649779A>G (hg19) ; chr7:g.150952691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952691A>G , CM000669.2:g.150952691A>G	GRCh38
NC_000007.13:g.150649779A>G , CM000669.1:g.150649779A>G	GRCh37
NC_000007.12:g.150280712A>G	NCBI36
NG_008916.1:g.30236T>C , LRG_288:g.30236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.589T>C
ENST00000684116.1:n.184T>C
ENST00000684241.1:n.2124T>C
ENST00000262186.10:c.1291T>C MANE Select	ENSP00000262186.5:p.Phe431Leu
ENST00000330883.9:c.271T>C	ENSP00000328531.4:p.Phe91Leu
ENST00000262186.9:c.1291T>C	ENSP00000262186.5:p.Phe431Leu
ENST00000330883.8:c.271T>C	ENSP00000328531.4:p.Phe91Leu
ENST00000430723.4:c.943T>C	ENSP00000387657.4:p.Phe315Leu
ENST00000461280.1:n.578T>C
ENST00000473610.5:n.596T>C
ENST00000532957.5:n.1514T>C
NM_000238.3:c.1291T>C , LRG_288t1:c.1291T>C	NP_000229.1:p.Phe431Leu
NM_001204798.1:c.271T>C	NP_001191727.1:p.Phe91Leu
NM_172056.2:c.1291T>C , LRG_288t2:c.1291T>C	NP_742053.1:p.Phe431Leu
NM_172057.2:c.271T>C , LRG_288t3:c.271T>C	NP_742054.1:p.Phe91Leu
XM_011516185.1:c.991T>C	XP_011514487.1:p.Phe331Leu
XM_011516186.1:c.1291T>C	XP_011514488.1:p.Phe431Leu
XM_011516185.2:c.991T>C	XP_011514487.1:p.Phe331Leu
XM_011516186.3:c.1291T>C	XP_011514488.1:p.Phe431Leu
XM_017012195.1:c.1141T>C	XP_016867684.1:p.Phe381Leu
XM_017012196.1:c.1114T>C	XP_016867685.1:p.Phe372Leu
NM_000238.4:c.1291T>C MANE Select	NP_000229.1:p.Phe431Leu
NM_001204798.2:c.271T>C	NP_001191727.1:p.Phe91Leu
NM_172057.3:c.271T>C	NP_742054.1:p.Phe91Leu