Canonical Allele Identifier: CA369857673

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 620172
• ClinVar RCV Id: RCV000760518 ; RCV002533838 ; RCV002282358
• dbSNP Id: rs749211387
• MyVariant Identifiers: chr7:g.150648151G>T (hg19) ; chr7:g.150951063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951063G>T , CM000669.2:g.150951063G>T	GRCh38
NC_000007.13:g.150648151G>T , CM000669.1:g.150648151G>T	GRCh37
NC_000007.12:g.150279084G>T	NCBI36
NG_008916.1:g.31864C>A , LRG_288:g.31864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1301C>A
ENST00000683359.1:n.127C>A
ENST00000684241.1:n.2836C>A
ENST00000262186.10:c.2003C>A MANE Select	ENSP00000262186.5:p.Ser668Ter
ENST00000330883.9:c.983C>A	ENSP00000328531.4:p.Ser328Ter
ENST00000262186.9:c.2003C>A	ENSP00000262186.5:p.Ser668Ter
ENST00000330883.8:c.983C>A	ENSP00000328531.4:p.Ser328Ter
ENST00000430723.4:c.1655C>A	ENSP00000387657.4:p.Ser552Ter
ENST00000461280.1:n.1290C>A
ENST00000473610.5:n.1635C>A
ENST00000532957.5:n.2226C>A
NM_000238.3:c.2003C>A , LRG_288t1:c.2003C>A	NP_000229.1:p.Ser668Ter
NM_001204798.1:c.983C>A	NP_001191727.1:p.Ser328Ter
NM_172056.2:c.2003C>A , LRG_288t2:c.2003C>A	NP_742053.1:p.Ser668Ter
NM_172057.2:c.983C>A , LRG_288t3:c.983C>A	NP_742054.1:p.Ser328Ter
XM_011516185.1:c.1703C>A	XP_011514487.1:p.Ser568Ter
XM_011516186.1:c.2003C>A	XP_011514488.1:p.Ser668Ter
XM_011516185.2:c.1703C>A	XP_011514487.1:p.Ser568Ter
XM_011516186.3:c.2003C>A	XP_011514488.1:p.Ser668Ter
XM_017012195.1:c.1853C>A	XP_016867684.1:p.Ser618Ter
XM_017012196.1:c.1826C>A	XP_016867685.1:p.Ser609Ter
NM_000238.4:c.2003C>A MANE Select	NP_000229.1:p.Ser668Ter
NM_001204798.2:c.983C>A	NP_001191727.1:p.Ser328Ter
NM_172057.3:c.983C>A	NP_742054.1:p.Ser328Ter