Canonical Allele Identifier: CA004896

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200728
• ClinVar RCV Id: RCV000182023 ; RCV000473348
• dbSNP Id: rs199472916
• gnomAD v4: 7-150951793-G-T
• MyVariant Identifiers: chr7:g.150648881G>T (hg19) ; chr7:g.150951793G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951793G>T , CM000669.2:g.150951793G>T	GRCh38
NC_000007.13:g.150648881G>T , CM000669.1:g.150648881G>T	GRCh37
NC_000007.12:g.150279814G>T	NCBI36
NG_008916.1:g.31134C>A , LRG_288:g.31134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.898C>A
ENST00000684116.1:n.493C>A
ENST00000684241.1:n.2433C>A
ENST00000262186.10:c.1600C>A MANE Select	ENSP00000262186.5:p.Arg534Ser
ENST00000330883.9:c.580C>A	ENSP00000328531.4:p.Arg194Ser
ENST00000262186.9:c.1600C>A	ENSP00000262186.5:p.Arg534Ser
ENST00000330883.8:c.580C>A	ENSP00000328531.4:p.Arg194Ser
ENST00000430723.4:c.1252C>A	ENSP00000387657.4:p.Arg418Ser
ENST00000461280.1:n.887C>A
ENST00000473610.5:n.905C>A
ENST00000532957.5:n.1823C>A
NM_000238.3:c.1600C>A , LRG_288t1:c.1600C>A	NP_000229.1:p.Arg534Ser
NM_001204798.1:c.580C>A	NP_001191727.1:p.Arg194Ser
NM_172056.2:c.1600C>A , LRG_288t2:c.1600C>A	NP_742053.1:p.Arg534Ser
NM_172057.2:c.580C>A , LRG_288t3:c.580C>A	NP_742054.1:p.Arg194Ser
XM_011516185.1:c.1300C>A	XP_011514487.1:p.Arg434Ser
XM_011516186.1:c.1600C>A	XP_011514488.1:p.Arg534Ser
XM_011516185.2:c.1300C>A	XP_011514487.1:p.Arg434Ser
XM_011516186.3:c.1600C>A	XP_011514488.1:p.Arg534Ser
XM_017012195.1:c.1450C>A	XP_016867684.1:p.Arg484Ser
XM_017012196.1:c.1423C>A	XP_016867685.1:p.Arg475Ser
NM_000238.4:c.1600C>A MANE Select	NP_000229.1:p.Arg534Ser
NM_001204798.2:c.580C>A	NP_001191727.1:p.Arg194Ser
NM_172057.3:c.580C>A	NP_742054.1:p.Arg194Ser