Canonical Allele Identifier: CA369860276

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952807-G-A
• COSMIC: COSM3703168 ; COSM3703169 ; COSM4778474
• MyVariant Identifiers: chr7:g.150649895G>A (hg19) ; chr7:g.150952807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952807G>A , CM000669.2:g.150952807G>A	GRCh38
NC_000007.13:g.150649895G>A , CM000669.1:g.150649895G>A	GRCh37
NC_000007.12:g.150280828G>A	NCBI36
NG_008916.1:g.30120C>T , LRG_288:g.30120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.473C>T
ENST00000684116.1:n.68C>T
ENST00000684241.1:n.2008C>T
ENST00000262186.10:c.1175C>T MANE Select	ENSP00000262186.5:p.Ala392Val
ENST00000330883.9:c.155C>T	ENSP00000328531.4:p.Ala52Val
ENST00000262186.9:c.1175C>T	ENSP00000262186.5:p.Ala392Val
ENST00000330883.8:c.155C>T	ENSP00000328531.4:p.Ala52Val
ENST00000430723.4:c.827C>T	ENSP00000387657.4:p.Ala276Val
ENST00000461280.1:n.462C>T
ENST00000473610.5:n.480C>T
ENST00000532957.5:n.1398C>T
NM_000238.3:c.1175C>T , LRG_288t1:c.1175C>T	NP_000229.1:p.Ala392Val
NM_001204798.1:c.155C>T	NP_001191727.1:p.Ala52Val
NM_172056.2:c.1175C>T , LRG_288t2:c.1175C>T	NP_742053.1:p.Ala392Val
NM_172057.2:c.155C>T , LRG_288t3:c.155C>T	NP_742054.1:p.Ala52Val
XM_011516185.1:c.875C>T	XP_011514487.1:p.Ala292Val
XM_011516186.1:c.1175C>T	XP_011514488.1:p.Ala392Val
XM_011516185.2:c.875C>T	XP_011514487.1:p.Ala292Val
XM_011516186.3:c.1175C>T	XP_011514488.1:p.Ala392Val
XM_017012195.1:c.1025C>T	XP_016867684.1:p.Ala342Val
XM_017012196.1:c.998C>T	XP_016867685.1:p.Ala333Val
NM_000238.4:c.1175C>T MANE Select	NP_000229.1:p.Ala392Val
NM_001204798.2:c.155C>T	NP_001191727.1:p.Ala52Val
NM_172057.3:c.155C>T	NP_742054.1:p.Ala52Val