Canonical Allele Identifier: CA005339

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200737
• ClinVar RCV Id: RCV000182028 ; RCV003532026
• dbSNP Id: rs794728483
• MyVariant Identifiers: chr7:g.150648739G>T (hg19) ; chr7:g.150951651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951651G>T , CM000669.2:g.150951651G>T	GRCh38
NC_000007.13:g.150648739G>T , CM000669.1:g.150648739G>T	GRCh37
NC_000007.12:g.150279672G>T	NCBI36
NG_008916.1:g.31276C>A , LRG_288:g.31276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1040C>A
ENST00000684241.1:n.2575C>A
ENST00000262186.10:c.1742C>A MANE Select	ENSP00000262186.5:p.Ser581Ter
ENST00000330883.9:c.722C>A	ENSP00000328531.4:p.Ser241Ter
ENST00000262186.9:c.1742C>A	ENSP00000262186.5:p.Ser581Ter
ENST00000330883.8:c.722C>A	ENSP00000328531.4:p.Ser241Ter
ENST00000430723.4:c.1394C>A	ENSP00000387657.4:p.Ser465Ter
ENST00000461280.1:n.1029C>A
ENST00000473610.5:n.1047C>A
ENST00000532957.5:n.1965C>A
NM_000238.3:c.1742C>A , LRG_288t1:c.1742C>A	NP_000229.1:p.Ser581Ter
NM_001204798.1:c.722C>A	NP_001191727.1:p.Ser241Ter
NM_172056.2:c.1742C>A , LRG_288t2:c.1742C>A	NP_742053.1:p.Ser581Ter
NM_172057.2:c.722C>A , LRG_288t3:c.722C>A	NP_742054.1:p.Ser241Ter
XM_011516185.1:c.1442C>A	XP_011514487.1:p.Ser481Ter
XM_011516186.1:c.1742C>A	XP_011514488.1:p.Ser581Ter
XM_011516185.2:c.1442C>A	XP_011514487.1:p.Ser481Ter
XM_011516186.3:c.1742C>A	XP_011514488.1:p.Ser581Ter
XM_017012195.1:c.1592C>A	XP_016867684.1:p.Ser531Ter
XM_017012196.1:c.1565C>A	XP_016867685.1:p.Ser522Ter
NM_000238.4:c.1742C>A MANE Select	NP_000229.1:p.Ser581Ter
NM_001204798.2:c.722C>A	NP_001191727.1:p.Ser241Ter
NM_172057.3:c.722C>A	NP_742054.1:p.Ser241Ter