Canonical Allele Identifier: CA008277

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67493
• ClinVar RCV Id: RCV000058222 ; RCV002223783 ; RCV002514289
• dbSNP Id: rs199473547
• gnomAD v2: 7-150642529-C-T
• gnomAD v3: 7-150945441-C-T
• gnomAD v4: 7-150945441-C-T
• MyVariant Identifiers: chr7:g.150642529C>T (hg19) ; chr7:g.150945441C>T (hg38)
• PubMed: PMID:18692916 ; PMID:19174314 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945441C>T , CM000669.2:g.150945441C>T	GRCh38
NC_000007.13:g.150642529C>T , CM000669.1:g.150642529C>T	GRCh37
NC_000007.12:g.150273462C>T	NCBI36
NG_008916.1:g.37486G>A , LRG_288:g.37486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4237G>A
ENST00000262186.10:c.3404G>A MANE Select	ENSP00000262186.5:p.Arg1135His
ENST00000330883.9:c.2384G>A	ENSP00000328531.4:p.Arg795His
ENST00000262186.9:c.3404G>A	ENSP00000262186.5:p.Arg1135His
ENST00000330883.8:c.2384G>A	ENSP00000328531.4:p.Arg795His
NM_000238.3:c.3404G>A , LRG_288t1:c.3404G>A	NP_000229.1:p.Arg1135His
NM_172057.2:c.2384G>A , LRG_288t3:c.2384G>A	NP_742054.1:p.Arg795His
XM_011516185.1:c.3104G>A	XP_011514487.1:p.Arg1035His
XM_011516185.2:c.3104G>A	XP_011514487.1:p.Arg1035His
XM_017012195.1:c.3254G>A	XP_016867684.1:p.Arg1085His
XM_017012196.1:c.3227G>A	XP_016867685.1:p.Arg1076His
NM_000238.4:c.3404G>A MANE Select	NP_000229.1:p.Arg1135His
NM_172057.3:c.2384G>A	NP_742054.1:p.Arg795His