Canonical Allele Identifier: CA005654

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 29777
• ClinVar RCV Id: RCV000058010 ; RCV000022643 ; RCV000254785 ; RCV000462085 ; RCV002408476
• dbSNP Id: rs199472944
• gnomAD v4: 7-150951552-G-A
• MyVariant Identifiers: chr7:g.150648640G>A (hg19) ; chr7:g.150951552G>A (hg38)
• PubMed: PMID:9024139 ; PMID:9544837 ; PMID:9693036 ; PMID:9927399 ; PMID:10187793 ; PMID:10560244 ; PMID:11854117 ; PMID:15840476 ; PMID:16432067 ; PMID:18441445 ; PMID:18752142 ; PMID:19057127 ; PMID:19070294 ; PMID:19716085 ; PMID:19841300 ; PMID:19843919 ; PMID:21240260 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951552G>A , CM000669.2:g.150951552G>A	GRCh38
NC_000007.13:g.150648640G>A , CM000669.1:g.150648640G>A	GRCh37
NC_000007.12:g.150279573G>A	NCBI36
NG_008916.1:g.31375C>T , LRG_288:g.31375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1139C>T
ENST00000684241.1:n.2674C>T
ENST00000262186.10:c.1841C>T MANE Select	ENSP00000262186.5:p.Ala614Val
ENST00000330883.9:c.821C>T	ENSP00000328531.4:p.Ala274Val
ENST00000262186.9:c.1841C>T	ENSP00000262186.5:p.Ala614Val
ENST00000330883.8:c.821C>T	ENSP00000328531.4:p.Ala274Val
ENST00000430723.4:c.1493C>T	ENSP00000387657.4:p.Ala498Val
ENST00000461280.1:n.1128C>T
ENST00000473610.5:n.1146C>T
ENST00000532957.5:n.2064C>T
NM_000238.3:c.1841C>T , LRG_288t1:c.1841C>T	NP_000229.1:p.Ala614Val
NM_001204798.1:c.821C>T	NP_001191727.1:p.Ala274Val
NM_172056.2:c.1841C>T , LRG_288t2:c.1841C>T	NP_742053.1:p.Ala614Val
NM_172057.2:c.821C>T , LRG_288t3:c.821C>T	NP_742054.1:p.Ala274Val
XM_011516185.1:c.1541C>T	XP_011514487.1:p.Ala514Val
XM_011516186.1:c.1841C>T	XP_011514488.1:p.Ala614Val
XM_011516185.2:c.1541C>T	XP_011514487.1:p.Ala514Val
XM_011516186.3:c.1841C>T	XP_011514488.1:p.Ala614Val
XM_017012195.1:c.1691C>T	XP_016867684.1:p.Ala564Val
XM_017012196.1:c.1664C>T	XP_016867685.1:p.Ala555Val
NM_000238.4:c.1841C>T MANE Select	NP_000229.1:p.Ala614Val
NM_001204798.2:c.821C>T	NP_001191727.1:p.Ala274Val
NM_172057.3:c.821C>T	NP_742054.1:p.Ala274Val