Canonical Allele Identifier: CA006093

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200402
• ClinVar RCV Id: RCV000181832 ; RCV003647755
• dbSNP Id: rs1137617
• MyVariant Identifiers: chr7:g.150648198A>T (hg19) ; chr7:g.150951110A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951110A>T , CM000669.2:g.150951110A>T	GRCh38
NC_000007.13:g.150648198A>T , CM000669.1:g.150648198A>T	GRCh37
NC_000007.12:g.150279131A>T	NCBI36
NG_008916.1:g.31817T>A , LRG_288:g.31817T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1254T>A
ENST00000683359.1:n.80T>A
ENST00000684241.1:n.2789T>A
ENST00000262186.10:c.1956T>A MANE Select	ENSP00000262186.5:p.Tyr652Ter
ENST00000330883.9:c.936T>A	ENSP00000328531.4:p.Tyr312Ter
ENST00000262186.9:c.1956T>A	ENSP00000262186.5:p.Tyr652Ter
ENST00000330883.8:c.936T>A	ENSP00000328531.4:p.Tyr312Ter
ENST00000430723.4:c.1608T>A	ENSP00000387657.4:p.Tyr536Ter
ENST00000461280.1:n.1243T>A
ENST00000473610.5:n.1588T>A
ENST00000532957.5:n.2179T>A
NM_000238.3:c.1956T>A , LRG_288t1:c.1956T>A	NP_000229.1:p.Tyr652Ter
NM_001204798.1:c.936T>A	NP_001191727.1:p.Tyr312Ter
NM_172056.2:c.1956T>A , LRG_288t2:c.1956T>A	NP_742053.1:p.Tyr652Ter
NM_172057.2:c.936T>A , LRG_288t3:c.936T>A	NP_742054.1:p.Tyr312Ter
XM_011516185.1:c.1656T>A	XP_011514487.1:p.Tyr552Ter
XM_011516186.1:c.1956T>A	XP_011514488.1:p.Tyr652Ter
XM_011516185.2:c.1656T>A	XP_011514487.1:p.Tyr552Ter
XM_011516186.3:c.1956T>A	XP_011514488.1:p.Tyr652Ter
XM_017012195.1:c.1806T>A	XP_016867684.1:p.Tyr602Ter
XM_017012196.1:c.1779T>A	XP_016867685.1:p.Tyr593Ter
NM_000238.4:c.1956T>A MANE Select	NP_000229.1:p.Tyr652Ter
NM_001204798.2:c.936T>A	NP_001191727.1:p.Tyr312Ter
NM_172057.3:c.936T>A	NP_742054.1:p.Tyr312Ter