Canonical Allele Identifier: CA458871649

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952578-G-C
• MyVariant Identifiers: chr7:g.150649666G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952578G>C , CM000669.2:g.150952578G>C	GRCh38
NC_000007.13:g.150649666G>C , CM000669.1:g.150649666G>C	GRCh37
NC_000007.12:g.150280599G>C	NCBI36
NG_008916.1:g.30349C>G , LRG_288:g.30349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.702C>G
ENST00000684116.1:n.297C>G
ENST00000684241.1:n.2237C>G
ENST00000262186.10:c.1404C>G MANE Select	ENSP00000262186.5:p.Leu468=
ENST00000330883.9:c.384C>G	ENSP00000328531.4:p.Leu128=
ENST00000262186.9:c.1404C>G	ENSP00000262186.5:p.Leu468=
ENST00000330883.8:c.384C>G	ENSP00000328531.4:p.Leu128=
ENST00000430723.4:c.1056C>G	ENSP00000387657.4:p.Leu352=
ENST00000461280.1:n.691C>G
ENST00000473610.5:n.709C>G
ENST00000532957.5:n.1627C>G
NM_000238.3:c.1404C>G , LRG_288t1:c.1404C>G	NP_000229.1:p.Leu468=
NM_001204798.1:c.384C>G	NP_001191727.1:p.Leu128=
NM_172056.2:c.1404C>G , LRG_288t2:c.1404C>G	NP_742053.1:p.Leu468=
NM_172057.2:c.384C>G , LRG_288t3:c.384C>G	NP_742054.1:p.Leu128=
XM_011516185.1:c.1104C>G	XP_011514487.1:p.Leu368=
XM_011516186.1:c.1404C>G	XP_011514488.1:p.Leu468=
XM_011516185.2:c.1104C>G	XP_011514487.1:p.Leu368=
XM_011516186.3:c.1404C>G	XP_011514488.1:p.Leu468=
XM_017012195.1:c.1254C>G	XP_016867684.1:p.Leu418=
XM_017012196.1:c.1227C>G	XP_016867685.1:p.Leu409=
NM_000238.4:c.1404C>G MANE Select	NP_000229.1:p.Leu468=
NM_001204798.2:c.384C>G	NP_001191727.1:p.Leu128=
NM_172057.3:c.384C>G	NP_742054.1:p.Leu128=