Canonical Allele Identifier: CA006334

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200417
• ClinVar RCV Id: RCV000181841 ; RCV002516847
• dbSNP Id: rs794728385
• MyVariant Identifiers: chr7:g.150647462T>G (hg19) ; chr7:g.150950374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950374T>G , CM000669.2:g.150950374T>G	GRCh38
NC_000007.13:g.150647462T>G , CM000669.1:g.150647462T>G	GRCh37
NC_000007.12:g.150278395T>G	NCBI36
NG_008916.1:g.32553A>C , LRG_288:g.32553A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1490A>C
ENST00000684241.1:n.3025A>C
ENST00000262186.10:c.2192A>C MANE Select	ENSP00000262186.5:p.His731Pro
ENST00000330883.9:c.1172A>C	ENSP00000328531.4:p.His391Pro
ENST00000262186.9:c.2192A>C	ENSP00000262186.5:p.His731Pro
ENST00000330883.8:c.1172A>C	ENSP00000328531.4:p.His391Pro
ENST00000430723.4:c.1844A>C	ENSP00000387657.4:p.His615Pro
ENST00000461280.1:n.1479A>C
ENST00000473610.5:n.1824A>C
ENST00000532957.5:n.2415A>C
NM_000238.3:c.2192A>C , LRG_288t1:c.2192A>C	NP_000229.1:p.His731Pro
NM_001204798.1:c.1172A>C	NP_001191727.1:p.His391Pro
NM_172056.2:c.2192A>C , LRG_288t2:c.2192A>C	NP_742053.1:p.His731Pro
NM_172057.2:c.1172A>C , LRG_288t3:c.1172A>C	NP_742054.1:p.His391Pro
XM_011516185.1:c.1892A>C	XP_011514487.1:p.His631Pro
XM_011516186.1:c.2192A>C	XP_011514488.1:p.His731Pro
XM_011516185.2:c.1892A>C	XP_011514487.1:p.His631Pro
XM_011516186.3:c.2192A>C	XP_011514488.1:p.His731Pro
XM_017012195.1:c.2042A>C	XP_016867684.1:p.His681Pro
XM_017012196.1:c.2015A>C	XP_016867685.1:p.His672Pro
NM_000238.4:c.2192A>C MANE Select	NP_000229.1:p.His731Pro
NM_001204798.2:c.1172A>C	NP_001191727.1:p.His391Pro
NM_172057.3:c.1172A>C	NP_742054.1:p.His391Pro