Canonical Allele Identifier: CA008110

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67480
• ClinVar RCV Id: RCV000058209 ; RCV000200795 ; RCV000620371 ; RCV001841748
• dbSNP Id: rs151031345
• ExAC: 7:150644092 T / C
• gnomAD v2: 7-150644092-T-C
• gnomAD v3: 7-150947004-T-C
• gnomAD v4: 7-150947004-T-C
• MyVariant Identifiers: chr7:g.150644092T>C (hg19) ; chr7:g.150947004T>C (hg38)
• PubMed: PMID:14661677 ; PMID:14975928 ; PMID:15913580 ; PMID:19841300 ; PMID:22581653 ; PMID:22949429 ; PMID:23303164 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947004T>C , CM000669.2:g.150947004T>C	GRCh38
NC_000007.13:g.150644092T>C , CM000669.1:g.150644092T>C	GRCh37
NC_000007.12:g.150275025T>C	NCBI36
NG_008916.1:g.35923A>G , LRG_288:g.35923A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4036A>G
ENST00000262186.10:c.3203A>G MANE Select	ENSP00000262186.5:p.Gln1068Arg
ENST00000330883.9:c.2183A>G	ENSP00000328531.4:p.Gln728Arg
ENST00000262186.9:c.3203A>G	ENSP00000262186.5:p.Gln1068Arg
ENST00000330883.8:c.2183A>G	ENSP00000328531.4:p.Gln728Arg
NM_000238.3:c.3203A>G , LRG_288t1:c.3203A>G	NP_000229.1:p.Gln1068Arg
NM_172057.2:c.2183A>G , LRG_288t3:c.2183A>G	NP_742054.1:p.Gln728Arg
XM_011516185.1:c.2903A>G	XP_011514487.1:p.Gln968Arg
XM_011516185.2:c.2903A>G	XP_011514487.1:p.Gln968Arg
XM_017012195.1:c.3053A>G	XP_016867684.1:p.Gln1018Arg
XM_017012196.1:c.3026A>G	XP_016867685.1:p.Gln1009Arg
NM_000238.4:c.3203A>G MANE Select	NP_000229.1:p.Gln1068Arg
NM_172057.3:c.2183A>G	NP_742054.1:p.Gln728Arg