Canonical Allele Identifier: CA005990

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200395
• ClinVar RCV Id: RCV000181828
• dbSNP Id: rs794728378
• COSMIC: COSM745982 ; COSM1150620 ; COSM4860839
• MyVariant Identifiers: chr7:g.150648568T>C (hg19) ; chr7:g.150951480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951480T>C , CM000669.2:g.150951480T>C	GRCh38
NC_000007.13:g.150648568T>C , CM000669.1:g.150648568T>C	GRCh37
NC_000007.12:g.150279501T>C	NCBI36
NG_008916.1:g.31447A>G , LRG_288:g.31447A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1211A>G
ENST00000683359.1:n.37A>G
ENST00000684241.1:n.2746A>G
ENST00000262186.10:c.1913A>G MANE Select	ENSP00000262186.5:p.Lys638Arg
ENST00000330883.9:c.893A>G	ENSP00000328531.4:p.Lys298Arg
ENST00000262186.9:c.1913A>G	ENSP00000262186.5:p.Lys638Arg
ENST00000330883.8:c.893A>G	ENSP00000328531.4:p.Lys298Arg
ENST00000430723.4:c.1565A>G	ENSP00000387657.4:p.Lys522Arg
ENST00000461280.1:n.1200A>G
ENST00000473610.5:n.1218A>G
ENST00000532957.5:n.2136A>G
NM_000238.3:c.1913A>G , LRG_288t1:c.1913A>G	NP_000229.1:p.Lys638Arg
NM_001204798.1:c.893A>G	NP_001191727.1:p.Lys298Arg
NM_172056.2:c.1913A>G , LRG_288t2:c.1913A>G	NP_742053.1:p.Lys638Arg
NM_172057.2:c.893A>G , LRG_288t3:c.893A>G	NP_742054.1:p.Lys298Arg
XM_011516185.1:c.1613A>G	XP_011514487.1:p.Lys538Arg
XM_011516186.1:c.1913A>G	XP_011514488.1:p.Lys638Arg
XM_011516185.2:c.1613A>G	XP_011514487.1:p.Lys538Arg
XM_011516186.3:c.1913A>G	XP_011514488.1:p.Lys638Arg
XM_017012195.1:c.1763A>G	XP_016867684.1:p.Lys588Arg
XM_017012196.1:c.1736A>G	XP_016867685.1:p.Lys579Arg
NM_000238.4:c.1913A>G MANE Select	NP_000229.1:p.Lys638Arg
NM_001204798.2:c.893A>G	NP_001191727.1:p.Lys298Arg
NM_172057.3:c.893A>G	NP_742054.1:p.Lys298Arg