Canonical Allele Identifier: CA2579062952

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950025-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950025T>G , CM000669.2:g.150950025T>G	GRCh38
NC_000007.13:g.150647113T>G , CM000669.1:g.150647113T>G	GRCh37
NC_000007.12:g.150278046T>G	NCBI36
NG_008916.1:g.32902A>C , LRG_288:g.32902A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1839A>C
ENST00000684241.1:n.3231+143A>C
ENST00000262186.10:c.2398+143A>C MANE Select	ENSP00000262186.5:n.2398+143A>C
ENST00000330883.9:c.1378+143A>C	ENSP00000328531.4:n.1378+143A>C
ENST00000262186.9:c.2398+143A>C	ENSP00000262186.5:n.2398+143A>C
ENST00000330883.8:c.1378+143A>C	ENSP00000328531.4:n.1378+143A>C
ENST00000430723.4:c.2193A>C	ENSP00000387657.4:p.Ser731=
ENST00000461280.1:n.1828A>C
ENST00000473610.5:n.2173A>C
ENST00000532957.5:n.2764A>C
NM_000238.3:c.2398+143A>C , LRG_288t1:c.2398+143A>C	NP_000229.1:n.2398+143A>C
NM_001204798.1:c.1521A>C	NP_001191727.1:p.Ser507=
NM_172056.2:c.2541A>C , LRG_288t2:c.2541A>C	NP_742053.1:p.Ser847=
NM_172057.2:c.1378+143A>C , LRG_288t3:c.1378+143A>C	NP_742054.1:n.1378+143A>C
XM_011516185.1:c.2098+143A>C	XP_011514487.1:n.2098+143A>C
XM_011516186.1:c.2398+143A>C	XP_011514488.1:n.2398+143A>C
XM_011516185.2:c.2098+143A>C	XP_011514487.1:n.2098+143A>C
XM_011516186.3:c.2398+143A>C	XP_011514488.1:n.2398+143A>C
XM_017012195.1:c.2248+143A>C	XP_016867684.1:n.2248+143A>C
XM_017012196.1:c.2221+143A>C	XP_016867685.1:n.2221+143A>C
NM_000238.4:c.2398+143A>C MANE Select	NP_000229.1:n.2398+143A>C
NM_001204798.2:c.1521A>C	NP_001191727.1:p.Ser507=
NM_172057.3:c.1378+143A>C	NP_742054.1:n.1378+143A>C