Canonical Allele Identifier: CA458645684

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2986808
• ClinVar RCV Id: RCV003846463
• MyVariant Identifiers: chr7:g.150649792G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952704G>C , CM000669.2:g.150952704G>C	GRCh38
NC_000007.13:g.150649792G>C , CM000669.1:g.150649792G>C	GRCh37
NC_000007.12:g.150280725G>C	NCBI36
NG_008916.1:g.30223C>G , LRG_288:g.30223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.576C>G
ENST00000684116.1:n.171C>G
ENST00000684241.1:n.2111C>G
ENST00000262186.10:c.1278C>G MANE Select	ENSP00000262186.5:p.Pro426=
ENST00000330883.9:c.258C>G	ENSP00000328531.4:p.Pro86=
ENST00000262186.9:c.1278C>G	ENSP00000262186.5:p.Pro426=
ENST00000330883.8:c.258C>G	ENSP00000328531.4:p.Pro86=
ENST00000430723.4:c.930C>G	ENSP00000387657.4:p.Pro310=
ENST00000461280.1:n.565C>G
ENST00000473610.5:n.583C>G
ENST00000532957.5:n.1501C>G
NM_000238.3:c.1278C>G , LRG_288t1:c.1278C>G	NP_000229.1:p.Pro426=
NM_001204798.1:c.258C>G	NP_001191727.1:p.Pro86=
NM_172056.2:c.1278C>G , LRG_288t2:c.1278C>G	NP_742053.1:p.Pro426=
NM_172057.2:c.258C>G , LRG_288t3:c.258C>G	NP_742054.1:p.Pro86=
XM_011516185.1:c.978C>G	XP_011514487.1:p.Pro326=
XM_011516186.1:c.1278C>G	XP_011514488.1:p.Pro426=
XM_011516185.2:c.978C>G	XP_011514487.1:p.Pro326=
XM_011516186.3:c.1278C>G	XP_011514488.1:p.Pro426=
XM_017012195.1:c.1128C>G	XP_016867684.1:p.Pro376=
XM_017012196.1:c.1101C>G	XP_016867685.1:p.Pro367=
NM_000238.4:c.1278C>G MANE Select	NP_000229.1:p.Pro426=
NM_001204798.2:c.258C>G	NP_001191727.1:p.Pro86=
NM_172057.3:c.258C>G	NP_742054.1:p.Pro86=