Canonical Allele Identifier: CA006870

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67405
• ClinVar RCV Id: RCV000058129 ; RCV000240628 ; RCV000631627
• dbSNP Id: rs199473005
• MyVariant Identifiers: chr7:g.150646027C>T (hg19) ; chr7:g.150948939C>T (hg38)
• PubMed: PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948939C>T , CM000669.2:g.150948939C>T	GRCh38
NC_000007.13:g.150646027C>T , CM000669.1:g.150646027C>T	GRCh37
NC_000007.12:g.150276960C>T	NCBI36
NG_008916.1:g.33988G>A , LRG_288:g.33988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3342G>A
ENST00000262186.10:c.2509G>A MANE Select	ENSP00000262186.5:p.Asp837Asn
ENST00000330883.9:c.1489G>A	ENSP00000328531.4:p.Asp497Asn
ENST00000262186.9:c.2509G>A	ENSP00000262186.5:p.Asp837Asn
ENST00000330883.8:c.1489G>A	ENSP00000328531.4:p.Asp497Asn
NM_000238.3:c.2509G>A , LRG_288t1:c.2509G>A	NP_000229.1:p.Asp837Asn
NM_172057.2:c.1489G>A , LRG_288t3:c.1489G>A	NP_742054.1:p.Asp497Asn
XM_011516185.1:c.2209G>A	XP_011514487.1:p.Asp737Asn
XM_011516186.1:c.2509G>A	XP_011514488.1:p.Asp837Asn
XM_011516185.2:c.2209G>A	XP_011514487.1:p.Asp737Asn
XM_011516186.3:c.2509G>A	XP_011514488.1:p.Asp837Asn
XM_017012195.1:c.2359G>A	XP_016867684.1:p.Asp787Asn
XM_017012196.1:c.2332G>A	XP_016867685.1:p.Asp778Asn
NM_000238.4:c.2509G>A MANE Select	NP_000229.1:p.Asp837Asn
NM_172057.3:c.1489G>A	NP_742054.1:p.Asp497Asn