Canonical Allele Identifier: CA369856513

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1017667
• ClinVar RCV Id: RCV001316853
• dbSNP Id: rs1264176305
• MyVariant Identifiers: chr7:g.150647423C>G (hg19) ; chr7:g.150950335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950335C>G , CM000669.2:g.150950335C>G	GRCh38
NC_000007.13:g.150647423C>G , CM000669.1:g.150647423C>G	GRCh37
NC_000007.12:g.150278356C>G	NCBI36
NG_008916.1:g.32592G>C , LRG_288:g.32592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1529G>C
ENST00000684241.1:n.3064G>C
ENST00000262186.10:c.2231G>C MANE Select	ENSP00000262186.5:p.Arg744Pro
ENST00000330883.9:c.1211G>C	ENSP00000328531.4:p.Arg404Pro
ENST00000262186.9:c.2231G>C	ENSP00000262186.5:p.Arg744Pro
ENST00000330883.8:c.1211G>C	ENSP00000328531.4:p.Arg404Pro
ENST00000430723.4:c.1883G>C	ENSP00000387657.4:p.Arg628Pro
ENST00000461280.1:n.1518G>C
ENST00000473610.5:n.1863G>C
ENST00000532957.5:n.2454G>C
NM_000238.3:c.2231G>C , LRG_288t1:c.2231G>C	NP_000229.1:p.Arg744Pro
NM_001204798.1:c.1211G>C	NP_001191727.1:p.Arg404Pro
NM_172056.2:c.2231G>C , LRG_288t2:c.2231G>C	NP_742053.1:p.Arg744Pro
NM_172057.2:c.1211G>C , LRG_288t3:c.1211G>C	NP_742054.1:p.Arg404Pro
XM_011516185.1:c.1931G>C	XP_011514487.1:p.Arg644Pro
XM_011516186.1:c.2231G>C	XP_011514488.1:p.Arg744Pro
XM_011516185.2:c.1931G>C	XP_011514487.1:p.Arg644Pro
XM_011516186.3:c.2231G>C	XP_011514488.1:p.Arg744Pro
XM_017012195.1:c.2081G>C	XP_016867684.1:p.Arg694Pro
XM_017012196.1:c.2054G>C	XP_016867685.1:p.Arg685Pro
NM_000238.4:c.2231G>C MANE Select	NP_000229.1:p.Arg744Pro
NM_001204798.2:c.1211G>C	NP_001191727.1:p.Arg404Pro
NM_172057.3:c.1211G>C	NP_742054.1:p.Arg404Pro