Canonical Allele Identifier: CA033689

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 402995
• ClinVar RCV Id: RCV000454411 ; RCV001575900 ; RCV000988002 ; RCV001841339 ; RCV000691808 ; RCV002488993 ; RCV003168715
• dbSNP Id: rs202194495
• ExAC: 7:150645570 C / T
• gnomAD v2: 7-150645570-C-T
• gnomAD v3: 7-150948482-C-T
• gnomAD v4: 7-150948482-C-T
• COSMIC: COSM3260963 ; COSM4360751
• MyVariant Identifiers: chr7:g.150645570C>T (hg19) ; chr7:g.150948482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948482C>T , CM000669.2:g.150948482C>T	GRCh38
NC_000007.13:g.150645570C>T , CM000669.1:g.150645570C>T	GRCh37
NC_000007.12:g.150276503C>T	NCBI36
NG_008916.1:g.34445G>A , LRG_288:g.34445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3487G>A
ENST00000262186.10:c.2654G>A MANE Select	ENSP00000262186.5:p.Arg885His
ENST00000330883.9:c.1634G>A	ENSP00000328531.4:p.Arg545His
ENST00000262186.9:c.2654G>A	ENSP00000262186.5:p.Arg885His
ENST00000330883.8:c.1634G>A	ENSP00000328531.4:p.Arg545His
NM_000238.3:c.2654G>A , LRG_288t1:c.2654G>A	NP_000229.1:p.Arg885His
NM_172057.2:c.1634G>A , LRG_288t3:c.1634G>A	NP_742054.1:p.Arg545His
XM_011516185.1:c.2354G>A	XP_011514487.1:p.Arg785His
XM_011516186.1:c.2654G>A	XP_011514488.1:p.Arg885His
XM_011516185.2:c.2354G>A	XP_011514487.1:p.Arg785His
XM_011516186.3:c.2654G>A	XP_011514488.1:p.Arg885His
XM_017012195.1:c.2504G>A	XP_016867684.1:p.Arg835His
XM_017012196.1:c.2477G>A	XP_016867685.1:p.Arg826His
NM_000238.4:c.2654G>A MANE Select	NP_000229.1:p.Arg885His
NM_172057.3:c.1634G>A	NP_742054.1:p.Arg545His