Canonical Allele Identifier: CA005358

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67259
• ClinVar RCV Id: RCV003591659
• dbSNP Id: rs199473427
• gnomAD v4: 7-150951646-T-C
• MyVariant Identifiers: chr7:g.150648734T>C (hg19) ; chr7:g.150951646T>C (hg38)
• PubMed: PMID:17438606 ; PMID:17438609 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951646T>C , CM000669.2:g.150951646T>C	GRCh38
NC_000007.13:g.150648734T>C , CM000669.1:g.150648734T>C	GRCh37
NC_000007.12:g.150279667T>C	NCBI36
NG_008916.1:g.31281A>G , LRG_288:g.31281A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1045A>G
ENST00000684241.1:n.2580A>G
ENST00000262186.10:c.1747A>G MANE Select	ENSP00000262186.5:p.Ile583Val
ENST00000330883.9:c.727A>G	ENSP00000328531.4:p.Ile243Val
ENST00000262186.9:c.1747A>G	ENSP00000262186.5:p.Ile583Val
ENST00000330883.8:c.727A>G	ENSP00000328531.4:p.Ile243Val
ENST00000430723.4:c.1399A>G	ENSP00000387657.4:p.Ile467Val
ENST00000461280.1:n.1034A>G
ENST00000473610.5:n.1052A>G
ENST00000532957.5:n.1970A>G
NM_000238.3:c.1747A>G , LRG_288t1:c.1747A>G	NP_000229.1:p.Ile583Val
NM_001204798.1:c.727A>G	NP_001191727.1:p.Ile243Val
NM_172056.2:c.1747A>G , LRG_288t2:c.1747A>G	NP_742053.1:p.Ile583Val
NM_172057.2:c.727A>G , LRG_288t3:c.727A>G	NP_742054.1:p.Ile243Val
XM_011516185.1:c.1447A>G	XP_011514487.1:p.Ile483Val
XM_011516186.1:c.1747A>G	XP_011514488.1:p.Ile583Val
XM_011516185.2:c.1447A>G	XP_011514487.1:p.Ile483Val
XM_011516186.3:c.1747A>G	XP_011514488.1:p.Ile583Val
XM_017012195.1:c.1597A>G	XP_016867684.1:p.Ile533Val
XM_017012196.1:c.1570A>G	XP_016867685.1:p.Ile524Val
NM_000238.4:c.1747A>G MANE Select	NP_000229.1:p.Ile583Val
NM_001204798.2:c.727A>G	NP_001191727.1:p.Ile243Val
NM_172057.3:c.727A>G	NP_742054.1:p.Ile243Val