Canonical Allele Identifier: CA369855807

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647169G>C (hg19) ; chr7:g.150950081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950081G>C , CM000669.2:g.150950081G>C	GRCh38
NC_000007.13:g.150647169G>C , CM000669.1:g.150647169G>C	GRCh37
NC_000007.12:g.150278102G>C	NCBI36
NG_008916.1:g.32846C>G , LRG_288:g.32846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1783C>G
ENST00000684241.1:n.3231+87C>G
ENST00000262186.10:c.2398+87C>G MANE Select	ENSP00000262186.5:n.2398+87C>G
ENST00000330883.9:c.1378+87C>G	ENSP00000328531.4:n.1378+87C>G
ENST00000262186.9:c.2398+87C>G	ENSP00000262186.5:n.2398+87C>G
ENST00000330883.8:c.1378+87C>G	ENSP00000328531.4:n.1378+87C>G
ENST00000430723.4:c.2137C>G	ENSP00000387657.4:p.Leu713Val
ENST00000461280.1:n.1772C>G
ENST00000473610.5:n.2117C>G
ENST00000532957.5:n.2708C>G
NM_000238.3:c.2398+87C>G , LRG_288t1:c.2398+87C>G	NP_000229.1:n.2398+87C>G
NM_001204798.1:c.1465C>G	NP_001191727.1:p.Leu489Val
NM_172056.2:c.2485C>G , LRG_288t2:c.2485C>G	NP_742053.1:p.Leu829Val
NM_172057.2:c.1378+87C>G , LRG_288t3:c.1378+87C>G	NP_742054.1:n.1378+87C>G
XM_011516185.1:c.2098+87C>G	XP_011514487.1:n.2098+87C>G
XM_011516186.1:c.2398+87C>G	XP_011514488.1:n.2398+87C>G
XM_011516185.2:c.2098+87C>G	XP_011514487.1:n.2098+87C>G
XM_011516186.3:c.2398+87C>G	XP_011514488.1:n.2398+87C>G
XM_017012195.1:c.2248+87C>G	XP_016867684.1:n.2248+87C>G
XM_017012196.1:c.2221+87C>G	XP_016867685.1:n.2221+87C>G
NM_000238.4:c.2398+87C>G MANE Select	NP_000229.1:n.2398+87C>G
NM_001204798.2:c.1465C>G	NP_001191727.1:p.Leu489Val
NM_172057.3:c.1378+87C>G	NP_742054.1:n.1378+87C>G