Canonical Allele Identifier: CA2685607345

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951257-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951257C>A , CM000669.2:g.150951257C>A	GRCh38
NC_000007.13:g.150648345C>A , CM000669.1:g.150648345C>A	GRCh37
NC_000007.12:g.150279278C>A	NCBI36
NG_008916.1:g.31670G>T , LRG_288:g.31670G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1244-137G>T
ENST00000683359.1:n.70-137G>T
ENST00000684241.1:n.2779-137G>T
ENST00000262186.10:c.1946-137G>T MANE Select	ENSP00000262186.5:n.1946-137G>T
ENST00000330883.9:c.926-137G>T	ENSP00000328531.4:n.926-137G>T
ENST00000262186.9:c.1946-137G>T	ENSP00000262186.5:n.1946-137G>T
ENST00000330883.8:c.926-137G>T	ENSP00000328531.4:n.926-137G>T
ENST00000430723.4:c.1598-137G>T	ENSP00000387657.4:n.1598-137G>T
ENST00000461280.1:n.1233-137G>T
ENST00000473610.5:n.1441G>T
ENST00000532957.5:n.2169-137G>T
NM_000238.3:c.1946-137G>T , LRG_288t1:c.1946-137G>T	NP_000229.1:n.1946-137G>T
NM_001204798.1:c.926-137G>T	NP_001191727.1:n.926-137G>T
NM_172056.2:c.1946-137G>T , LRG_288t2:c.1946-137G>T	NP_742053.1:n.1946-137G>T
NM_172057.2:c.926-137G>T , LRG_288t3:c.926-137G>T	NP_742054.1:n.926-137G>T
XM_011516185.1:c.1646-137G>T	XP_011514487.1:n.1646-137G>T
XM_011516186.1:c.1946-137G>T	XP_011514488.1:n.1946-137G>T
XM_011516185.2:c.1646-137G>T	XP_011514487.1:n.1646-137G>T
XM_011516186.3:c.1946-137G>T	XP_011514488.1:n.1946-137G>T
XM_017012195.1:c.1796-137G>T	XP_016867684.1:n.1796-137G>T
XM_017012196.1:c.1769-137G>T	XP_016867685.1:n.1769-137G>T
NM_000238.4:c.1946-137G>T MANE Select	NP_000229.1:n.1946-137G>T
NM_001204798.2:c.926-137G>T	NP_001191727.1:n.926-137G>T
NM_172057.3:c.926-137G>T	NP_742054.1:n.926-137G>T