Canonical Allele Identifier: CA005198

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67243
• ClinVar RCV Id: RCV000057954 ; RCV000689953
• dbSNP Id: rs199472926
• MyVariant Identifiers: chr7:g.150648777C>G (hg19) ; chr7:g.150951689C>G (hg38)
• PubMed: PMID:16265869 ; PMID:17224687 ; PMID:17905336 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951689C>G , CM000669.2:g.150951689C>G	GRCh38
NC_000007.13:g.150648777C>G , CM000669.1:g.150648777C>G	GRCh37
NC_000007.12:g.150279710C>G	NCBI36
NG_008916.1:g.31238G>C , LRG_288:g.31238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1002G>C
ENST00000684241.1:n.2537G>C
ENST00000262186.10:c.1704G>C MANE Select	ENSP00000262186.5:p.Trp568Cys
ENST00000330883.9:c.684G>C	ENSP00000328531.4:p.Trp228Cys
ENST00000262186.9:c.1704G>C	ENSP00000262186.5:p.Trp568Cys
ENST00000330883.8:c.684G>C	ENSP00000328531.4:p.Trp228Cys
ENST00000430723.4:c.1356G>C	ENSP00000387657.4:p.Trp452Cys
ENST00000461280.1:n.991G>C
ENST00000473610.5:n.1009G>C
ENST00000532957.5:n.1927G>C
NM_000238.3:c.1704G>C , LRG_288t1:c.1704G>C	NP_000229.1:p.Trp568Cys
NM_001204798.1:c.684G>C	NP_001191727.1:p.Trp228Cys
NM_172056.2:c.1704G>C , LRG_288t2:c.1704G>C	NP_742053.1:p.Trp568Cys
NM_172057.2:c.684G>C , LRG_288t3:c.684G>C	NP_742054.1:p.Trp228Cys
XM_011516185.1:c.1404G>C	XP_011514487.1:p.Trp468Cys
XM_011516186.1:c.1704G>C	XP_011514488.1:p.Trp568Cys
XM_011516185.2:c.1404G>C	XP_011514487.1:p.Trp468Cys
XM_011516186.3:c.1704G>C	XP_011514488.1:p.Trp568Cys
XM_017012195.1:c.1554G>C	XP_016867684.1:p.Trp518Cys
XM_017012196.1:c.1527G>C	XP_016867685.1:p.Trp509Cys
NM_000238.4:c.1704G>C MANE Select	NP_000229.1:p.Trp568Cys
NM_001204798.2:c.684G>C	NP_001191727.1:p.Trp228Cys
NM_172057.3:c.684G>C	NP_742054.1:p.Trp228Cys