Canonical Allele Identifier: CA005647

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67292
• ClinVar RCV Id: RCV000058009 ; RCV000244892 ; RCV000223761 ; RCV000527495 ; RCV001196417 ; RCV001258357
• dbSNP Id: rs199473524
• gnomAD v4: 7-150951555-G-A
• COSMIC: COSM3636216 ; COSM3636217 ; COSM4905788
• MyVariant Identifiers: chr7:g.150648643G>A (hg19) ; chr7:g.150951555G>A (hg38)
• PubMed: PMID:10220144 ; PMID:10862094 ; PMID:10973849 ; PMID:11222472 ; PMID:11524404 ; PMID:11854117 ; PMID:12402336 ; PMID:12566525 ; PMID:14998624 ; PMID:15466642 ; PMID:15840476 ; PMID:16379539 ; PMID:16922724 ; PMID:17224687 ; PMID:18441445 ; PMID:19716085 ; PMID:19731233 ; PMID:19841300 ; PMID:21350584 ; PMID:22402334 ; PMID:22581653 ; PMID:22949429 ; PMID:23631430 ; PMID:24973560 ; PMID:25417810 ; PMID:26173150 ; PMID:26496715

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951555G>A , CM000669.2:g.150951555G>A	GRCh38
NC_000007.13:g.150648643G>A , CM000669.1:g.150648643G>A	GRCh37
NC_000007.12:g.150279576G>A	NCBI36
NG_008916.1:g.31372C>T , LRG_288:g.31372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1136C>T
ENST00000684241.1:n.2671C>T
ENST00000262186.10:c.1838C>T MANE Select	ENSP00000262186.5:p.Thr613Met
ENST00000330883.9:c.818C>T	ENSP00000328531.4:p.Thr273Met
ENST00000262186.9:c.1838C>T	ENSP00000262186.5:p.Thr613Met
ENST00000330883.8:c.818C>T	ENSP00000328531.4:p.Thr273Met
ENST00000430723.4:c.1490C>T	ENSP00000387657.4:p.Thr497Met
ENST00000461280.1:n.1125C>T
ENST00000473610.5:n.1143C>T
ENST00000532957.5:n.2061C>T
NM_000238.3:c.1838C>T , LRG_288t1:c.1838C>T	NP_000229.1:p.Thr613Met
NM_001204798.1:c.818C>T	NP_001191727.1:p.Thr273Met
NM_172056.2:c.1838C>T , LRG_288t2:c.1838C>T	NP_742053.1:p.Thr613Met
NM_172057.2:c.818C>T , LRG_288t3:c.818C>T	NP_742054.1:p.Thr273Met
XM_011516185.1:c.1538C>T	XP_011514487.1:p.Thr513Met
XM_011516186.1:c.1838C>T	XP_011514488.1:p.Thr613Met
XM_011516185.2:c.1538C>T	XP_011514487.1:p.Thr513Met
XM_011516186.3:c.1838C>T	XP_011514488.1:p.Thr613Met
XM_017012195.1:c.1688C>T	XP_016867684.1:p.Thr563Met
XM_017012196.1:c.1661C>T	XP_016867685.1:p.Thr554Met
NM_000238.4:c.1838C>T MANE Select	NP_000229.1:p.Thr613Met
NM_001204798.2:c.818C>T	NP_001191727.1:p.Thr273Met
NM_172057.3:c.818C>T	NP_742054.1:p.Thr273Met