Canonical Allele Identifier: CA2685605331

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950543-GAAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950544_150950548del , CM000669.2:g.150950544_150950548del	GRCh38
NC_000007.13:g.150647632_150647636del , CM000669.1:g.150647632_150647636del	GRCh37
NC_000007.12:g.150278565_150278569del	NCBI36
NG_008916.1:g.32379_32383del , LRG_288:g.32379_32383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1444-128_1444-124del
ENST00000684241.1:n.2979-128_2979-124del
ENST00000262186.10:c.2146-128_2146-124del MANE Select	ENSP00000262186.5:n.2146-128_2146-124del
ENST00000330883.9:c.1126-128_1126-124del	ENSP00000328531.4:n.1126-128_1126-124del
ENST00000262186.9:c.2146-128_2146-124del	ENSP00000262186.5:n.2146-128_2146-124del
ENST00000330883.8:c.1126-128_1126-124del	ENSP00000328531.4:n.1126-128_1126-124del
ENST00000430723.4:c.1798-128_1798-124del	ENSP00000387657.4:n.1798-128_1798-124del
ENST00000461280.1:n.1433-128_1433-124del
ENST00000473610.5:n.1778-128_1778-124del
ENST00000532957.5:n.2369-128_2369-124del
NM_000238.3:c.2146-128_2146-124del , LRG_288t1:c.2146-128_2146-124del	NP_000229.1:n.2146-128_2146-124del
NM_001204798.1:c.1126-128_1126-124del	NP_001191727.1:n.1126-128_1126-124del
NM_172056.2:c.2146-128_2146-124del , LRG_288t2:c.2146-128_2146-124del	NP_742053.1:n.2146-128_2146-124del
NM_172057.2:c.1126-128_1126-124del , LRG_288t3:c.1126-128_1126-124del	NP_742054.1:n.1126-128_1126-124del
XM_011516185.1:c.1846-128_1846-124del	XP_011514487.1:n.1846-128_1846-124del
XM_011516186.1:c.2146-128_2146-124del	XP_011514488.1:n.2146-128_2146-124del
XM_011516185.2:c.1846-128_1846-124del	XP_011514487.1:n.1846-128_1846-124del
XM_011516186.3:c.2146-128_2146-124del	XP_011514488.1:n.2146-128_2146-124del
XM_017012195.1:c.1996-128_1996-124del	XP_016867684.1:n.1996-128_1996-124del
XM_017012196.1:c.1969-128_1969-124del	XP_016867685.1:n.1969-128_1969-124del
NM_000238.4:c.2146-128_2146-124del MANE Select	NP_000229.1:n.2146-128_2146-124del
NM_001204798.2:c.1126-128_1126-124del	NP_001191727.1:n.1126-128_1126-124del
NM_172057.3:c.1126-128_1126-124del	NP_742054.1:n.1126-128_1126-124del