Canonical Allele Identifier: CA2685607323

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951250-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951250A>C , CM000669.2:g.150951250A>C	GRCh38
NC_000007.13:g.150648338A>C , CM000669.1:g.150648338A>C	GRCh37
NC_000007.12:g.150279271A>C	NCBI36
NG_008916.1:g.31677T>G , LRG_288:g.31677T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1244-130T>G
ENST00000683359.1:n.70-130T>G
ENST00000684241.1:n.2779-130T>G
ENST00000262186.10:c.1946-130T>G MANE Select	ENSP00000262186.5:n.1946-130T>G
ENST00000330883.9:c.926-130T>G	ENSP00000328531.4:n.926-130T>G
ENST00000262186.9:c.1946-130T>G	ENSP00000262186.5:n.1946-130T>G
ENST00000330883.8:c.926-130T>G	ENSP00000328531.4:n.926-130T>G
ENST00000430723.4:c.1598-130T>G	ENSP00000387657.4:n.1598-130T>G
ENST00000461280.1:n.1233-130T>G
ENST00000473610.5:n.1448T>G
ENST00000532957.5:n.2169-130T>G
NM_000238.3:c.1946-130T>G , LRG_288t1:c.1946-130T>G	NP_000229.1:n.1946-130T>G
NM_001204798.1:c.926-130T>G	NP_001191727.1:n.926-130T>G
NM_172056.2:c.1946-130T>G , LRG_288t2:c.1946-130T>G	NP_742053.1:n.1946-130T>G
NM_172057.2:c.926-130T>G , LRG_288t3:c.926-130T>G	NP_742054.1:n.926-130T>G
XM_011516185.1:c.1646-130T>G	XP_011514487.1:n.1646-130T>G
XM_011516186.1:c.1946-130T>G	XP_011514488.1:n.1946-130T>G
XM_011516185.2:c.1646-130T>G	XP_011514487.1:n.1646-130T>G
XM_011516186.3:c.1946-130T>G	XP_011514488.1:n.1946-130T>G
XM_017012195.1:c.1796-130T>G	XP_016867684.1:n.1796-130T>G
XM_017012196.1:c.1769-130T>G	XP_016867685.1:n.1769-130T>G
NM_000238.4:c.1946-130T>G MANE Select	NP_000229.1:n.1946-130T>G
NM_001204798.2:c.926-130T>G	NP_001191727.1:n.926-130T>G
NM_172057.3:c.926-130T>G	NP_742054.1:n.926-130T>G