Canonical Allele Identifier: CA007728

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67458
• ClinVar RCV Id: RCV000058185 ; RCV000181903
• dbSNP Id: rs199473018
• MyVariant Identifiers: chr7:g.150644581T>A (hg19) ; chr7:g.150947493T>A (hg38)
• PubMed: PMID:15840476 ; PMID:15851119 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947493T>A , CM000669.2:g.150947493T>A	GRCh38
NC_000007.13:g.150644581T>A , CM000669.1:g.150644581T>A	GRCh37
NC_000007.12:g.150275514T>A	NCBI36
NG_008916.1:g.35434A>T , LRG_288:g.35434A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3820A>T
ENST00000262186.10:c.2987A>T MANE Select	ENSP00000262186.5:p.Asn996Ile
ENST00000330883.9:c.1967A>T	ENSP00000328531.4:p.Asn656Ile
ENST00000262186.9:c.2987A>T	ENSP00000262186.5:p.Asn996Ile
ENST00000330883.8:c.1967A>T	ENSP00000328531.4:p.Asn656Ile
NM_000238.3:c.2987A>T , LRG_288t1:c.2987A>T	NP_000229.1:p.Asn996Ile
NM_172057.2:c.1967A>T , LRG_288t3:c.1967A>T	NP_742054.1:p.Asn656Ile
XM_011516185.1:c.2687A>T	XP_011514487.1:p.Asn896Ile
XM_011516186.1:c.*67A>T	XP_011514488.1:n.*67A>T
XM_011516185.2:c.2687A>T	XP_011514487.1:p.Asn896Ile
XM_011516186.3:c.*67A>T	XP_011514488.1:n.*67A>T
XM_017012195.1:c.2837A>T	XP_016867684.1:p.Asn946Ile
XM_017012196.1:c.2810A>T	XP_016867685.1:p.Asn937Ile
NM_000238.4:c.2987A>T MANE Select	NP_000229.1:p.Asn996Ile
NM_172057.3:c.1967A>T	NP_742054.1:p.Asn656Ile