Canonical Allele Identifier: CA030833

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1983783
• ClinVar RCV Id: RCV002770445
• dbSNP Id: rs777341700
• ExAC: 7:150647998 G / C
• gnomAD v2: 7-150647998-G-C
• gnomAD v3: 7-150950910-G-C
• gnomAD v4: 7-150950910-G-C
• MyVariant Identifiers: chr7:g.150647998G>C (hg19) ; chr7:g.150950910G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950910G>C , CM000669.2:g.150950910G>C	GRCh38
NC_000007.13:g.150647998G>C , CM000669.1:g.150647998G>C	GRCh37
NC_000007.12:g.150278931G>C	NCBI36
NG_008916.1:g.32017C>G , LRG_288:g.32017C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+11C>G
ENST00000683359.1:n.280C>G
ENST00000684241.1:n.2978+11C>G
ENST00000262186.10:c.2145+11C>G MANE Select	ENSP00000262186.5:n.2145+11C>G
ENST00000330883.9:c.1125+11C>G	ENSP00000328531.4:n.1125+11C>G
ENST00000262186.9:c.2145+11C>G	ENSP00000262186.5:n.2145+11C>G
ENST00000330883.8:c.1125+11C>G	ENSP00000328531.4:n.1125+11C>G
ENST00000430723.4:c.1797+11C>G	ENSP00000387657.4:n.1797+11C>G
ENST00000461280.1:n.1432+11C>G
ENST00000473610.5:n.1777+11C>G
ENST00000532957.5:n.2368+11C>G
NM_000238.3:c.2145+11C>G , LRG_288t1:c.2145+11C>G	NP_000229.1:n.2145+11C>G
NM_001204798.1:c.1125+11C>G	NP_001191727.1:n.1125+11C>G
NM_172056.2:c.2145+11C>G , LRG_288t2:c.2145+11C>G	NP_742053.1:n.2145+11C>G
NM_172057.2:c.1125+11C>G , LRG_288t3:c.1125+11C>G	NP_742054.1:n.1125+11C>G
XM_011516185.1:c.1845+11C>G	XP_011514487.1:n.1845+11C>G
XM_011516186.1:c.2145+11C>G	XP_011514488.1:n.2145+11C>G
XM_011516185.2:c.1845+11C>G	XP_011514487.1:n.1845+11C>G
XM_011516186.3:c.2145+11C>G	XP_011514488.1:n.2145+11C>G
XM_017012195.1:c.1995+11C>G	XP_016867684.1:n.1995+11C>G
XM_017012196.1:c.1968+11C>G	XP_016867685.1:n.1968+11C>G
NM_000238.4:c.2145+11C>G MANE Select	NP_000229.1:n.2145+11C>G
NM_001204798.2:c.1125+11C>G	NP_001191727.1:n.1125+11C>G
NM_172057.3:c.1125+11C>G	NP_742054.1:n.1125+11C>G