Canonical Allele Identifier: CA006712

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67397
• ClinVar RCV Id: RCV000058119 ; RCV000181862 ; RCV000474113 ; RCV000621445
• dbSNP Id: rs199472999
• MyVariant Identifiers: chr7:g.150646122A>C (hg19) ; chr7:g.150949034A>C (hg38)
• PubMed: PMID:10973849 ; PMID:11741928 ; PMID:11854117 ; PMID:12837749 ; PMID:15840476 ; PMID:15851652 ; PMID:16432067 ; PMID:17569659 ; PMID:18468596 ; PMID:20348026 ; PMID:22581653 ; PMID:23303164 ; PMID:23316740 ; PMID:28431243

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949034A>C , CM000669.2:g.150949034A>C	GRCh38
NC_000007.13:g.150646122A>C , CM000669.1:g.150646122A>C	GRCh37
NC_000007.12:g.150277055A>C	NCBI36
NG_008916.1:g.33893T>G , LRG_288:g.33893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3247T>G
ENST00000262186.10:c.2414T>G MANE Select	ENSP00000262186.5:p.Phe805Cys
ENST00000330883.9:c.1394T>G	ENSP00000328531.4:p.Phe465Cys
ENST00000262186.9:c.2414T>G	ENSP00000262186.5:p.Phe805Cys
ENST00000330883.8:c.1394T>G	ENSP00000328531.4:p.Phe465Cys
NM_000238.3:c.2414T>G , LRG_288t1:c.2414T>G	NP_000229.1:p.Phe805Cys
NM_172057.2:c.1394T>G , LRG_288t3:c.1394T>G	NP_742054.1:p.Phe465Cys
XM_011516185.1:c.2114T>G	XP_011514487.1:p.Phe705Cys
XM_011516186.1:c.2414T>G	XP_011514488.1:p.Phe805Cys
XM_011516185.2:c.2114T>G	XP_011514487.1:p.Phe705Cys
XM_011516186.3:c.2414T>G	XP_011514488.1:p.Phe805Cys
XM_017012195.1:c.2264T>G	XP_016867684.1:p.Phe755Cys
XM_017012196.1:c.2237T>G	XP_016867685.1:p.Phe746Cys
NM_000238.4:c.2414T>G MANE Select	NP_000229.1:p.Phe805Cys
NM_172057.3:c.1394T>G	NP_742054.1:p.Phe465Cys