Canonical Allele Identifier: CA16605727

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 379294
• ClinVar RCV Id: RCV000434005 ; RCV001841310 ; RCV001851044
• dbSNP Id: rs1057520559
• gnomAD v4: 7-150950164-A-G
• MyVariant Identifiers: chr7:g.150647252A>G (hg19) ; chr7:g.150950164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950164A>G , CM000669.2:g.150950164A>G	GRCh38
NC_000007.13:g.150647252A>G , CM000669.1:g.150647252A>G	GRCh37
NC_000007.12:g.150278185A>G	NCBI36
NG_008916.1:g.32763T>C , LRG_288:g.32763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1700T>C
ENST00000684241.1:n.3231+4T>C
ENST00000262186.10:c.2398+4T>C MANE Select	ENSP00000262186.5:n.2398+4T>C
ENST00000330883.9:c.1378+4T>C	ENSP00000328531.4:n.1378+4T>C
ENST00000262186.9:c.2398+4T>C	ENSP00000262186.5:n.2398+4T>C
ENST00000330883.8:c.1378+4T>C	ENSP00000328531.4:n.1378+4T>C
ENST00000430723.4:c.2054T>C	ENSP00000387657.4:p.Met685Thr
ENST00000461280.1:n.1689T>C
ENST00000473610.5:n.2034T>C
ENST00000532957.5:n.2625T>C
NM_000238.3:c.2398+4T>C , LRG_288t1:c.2398+4T>C	NP_000229.1:n.2398+4T>C
NM_001204798.1:c.1382T>C	NP_001191727.1:p.Met461Thr
NM_172056.2:c.2402T>C , LRG_288t2:c.2402T>C	NP_742053.1:p.Met801Thr
NM_172057.2:c.1378+4T>C , LRG_288t3:c.1378+4T>C	NP_742054.1:n.1378+4T>C
XM_011516185.1:c.2098+4T>C	XP_011514487.1:n.2098+4T>C
XM_011516186.1:c.2398+4T>C	XP_011514488.1:n.2398+4T>C
XM_011516185.2:c.2098+4T>C	XP_011514487.1:n.2098+4T>C
XM_011516186.3:c.2398+4T>C	XP_011514488.1:n.2398+4T>C
XM_017012195.1:c.2248+4T>C	XP_016867684.1:n.2248+4T>C
XM_017012196.1:c.2221+4T>C	XP_016867685.1:n.2221+4T>C
NM_000238.4:c.2398+4T>C MANE Select	NP_000229.1:n.2398+4T>C
NM_001204798.2:c.1382T>C	NP_001191727.1:p.Met461Thr
NM_172057.3:c.1378+4T>C	NP_742054.1:n.1378+4T>C