Canonical Allele Identifier: CA1752434082

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801123838
• gnomAD v4: 7-150950907-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950907T>G , CM000669.2:g.150950907T>G	GRCh38
NC_000007.13:g.150647995T>G , CM000669.1:g.150647995T>G	GRCh37
NC_000007.12:g.150278928T>G	NCBI36
NG_008916.1:g.32020A>C , LRG_288:g.32020A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+14A>C
ENST00000683359.1:n.283A>C
ENST00000684241.1:n.2978+14A>C
ENST00000262186.10:c.2145+14A>C MANE Select	ENSP00000262186.5:n.2145+14A>C
ENST00000330883.9:c.1125+14A>C	ENSP00000328531.4:n.1125+14A>C
ENST00000262186.9:c.2145+14A>C	ENSP00000262186.5:n.2145+14A>C
ENST00000330883.8:c.1125+14A>C	ENSP00000328531.4:n.1125+14A>C
ENST00000430723.4:c.1797+14A>C	ENSP00000387657.4:n.1797+14A>C
ENST00000461280.1:n.1432+14A>C
ENST00000473610.5:n.1777+14A>C
ENST00000532957.5:n.2368+14A>C
NM_000238.3:c.2145+14A>C , LRG_288t1:c.2145+14A>C	NP_000229.1:n.2145+14A>C
NM_001204798.1:c.1125+14A>C	NP_001191727.1:n.1125+14A>C
NM_172056.2:c.2145+14A>C , LRG_288t2:c.2145+14A>C	NP_742053.1:n.2145+14A>C
NM_172057.2:c.1125+14A>C , LRG_288t3:c.1125+14A>C	NP_742054.1:n.1125+14A>C
XM_011516185.1:c.1845+14A>C	XP_011514487.1:n.1845+14A>C
XM_011516186.1:c.2145+14A>C	XP_011514488.1:n.2145+14A>C
XM_011516185.2:c.1845+14A>C	XP_011514487.1:n.1845+14A>C
XM_011516186.3:c.2145+14A>C	XP_011514488.1:n.2145+14A>C
XM_017012195.1:c.1995+14A>C	XP_016867684.1:n.1995+14A>C
XM_017012196.1:c.1968+14A>C	XP_016867685.1:n.1968+14A>C
NM_000238.4:c.2145+14A>C MANE Select	NP_000229.1:n.2145+14A>C
NM_001204798.2:c.1125+14A>C	NP_001191727.1:n.1125+14A>C
NM_172057.3:c.1125+14A>C	NP_742054.1:n.1125+14A>C