Canonical Allele Identifier: CA006194

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67359
• ClinVar RCV Id: RCV000058079 ; RCV000181836 ; RCV000546253 ; RCV000624294
• dbSNP Id: rs199472983
• MyVariant Identifiers: chr7:g.150648076A>G (hg19) ; chr7:g.150950988A>G (hg38)
• PubMed: PMID:10220144 ; PMID:11136691 ; PMID:12925462 ; PMID:15828882 ; PMID:15840476 ; PMID:16414944 ; PMID:16926178 ; PMID:17210839 ; PMID:18835466 ; PMID:19716085 ; PMID:19841300 ; PMID:21130771 ; PMID:22581653 ; PMID:24400717 ; PMID:25974115 ; PMID:27761161

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950988A>G , CM000669.2:g.150950988A>G	GRCh38
NC_000007.13:g.150648076A>G , CM000669.1:g.150648076A>G	GRCh37
NC_000007.12:g.150279009A>G	NCBI36
NG_008916.1:g.31939T>C , LRG_288:g.31939T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1376T>C
ENST00000683359.1:n.202T>C
ENST00000684241.1:n.2911T>C
ENST00000262186.10:c.2078T>C MANE Select	ENSP00000262186.5:p.Leu693Pro
ENST00000330883.9:c.1058T>C	ENSP00000328531.4:p.Leu353Pro
ENST00000262186.9:c.2078T>C	ENSP00000262186.5:p.Leu693Pro
ENST00000330883.8:c.1058T>C	ENSP00000328531.4:p.Leu353Pro
ENST00000430723.4:c.1730T>C	ENSP00000387657.4:p.Leu577Pro
ENST00000461280.1:n.1365T>C
ENST00000473610.5:n.1710T>C
ENST00000532957.5:n.2301T>C
NM_000238.3:c.2078T>C , LRG_288t1:c.2078T>C	NP_000229.1:p.Leu693Pro
NM_001204798.1:c.1058T>C	NP_001191727.1:p.Leu353Pro
NM_172056.2:c.2078T>C , LRG_288t2:c.2078T>C	NP_742053.1:p.Leu693Pro
NM_172057.2:c.1058T>C , LRG_288t3:c.1058T>C	NP_742054.1:p.Leu353Pro
XM_011516185.1:c.1778T>C	XP_011514487.1:p.Leu593Pro
XM_011516186.1:c.2078T>C	XP_011514488.1:p.Leu693Pro
XM_011516185.2:c.1778T>C	XP_011514487.1:p.Leu593Pro
XM_011516186.3:c.2078T>C	XP_011514488.1:p.Leu693Pro
XM_017012195.1:c.1928T>C	XP_016867684.1:p.Leu643Pro
XM_017012196.1:c.1901T>C	XP_016867685.1:p.Leu634Pro
NM_000238.4:c.2078T>C MANE Select	NP_000229.1:p.Leu693Pro
NM_001204798.2:c.1058T>C	NP_001191727.1:p.Leu353Pro
NM_172057.3:c.1058T>C	NP_742054.1:p.Leu353Pro