Canonical Allele Identifier: CA369861935

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 526915
• ClinVar RCV Id: RCV000631566
• dbSNP Id: rs1241849013
• gnomAD v2: 7-150654582-G-A
• gnomAD v3: 7-150957494-G-A
• gnomAD v4: 7-150957494-G-A
• MyVariant Identifiers: chr7:g.150654582G>A (hg19) ; chr7:g.150957494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957494G>A , CM000669.2:g.150957494G>A	GRCh38
NC_000007.13:g.150654582G>A , CM000669.1:g.150654582G>A	GRCh37
NC_000007.12:g.150285515G>A	NCBI36
NG_008916.1:g.25433C>T , LRG_288:g.25433C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1758C>T
ENST00000262186.10:c.925C>T MANE Select	ENSP00000262186.5:p.His309Tyr
ENST00000262186.9:c.925C>T	ENSP00000262186.5:p.His309Tyr
ENST00000430723.4:c.577C>T	ENSP00000387657.4:p.His193Tyr
ENST00000532957.5:n.1148C>T
NM_000238.3:c.925C>T , LRG_288t1:c.925C>T	NP_000229.1:p.His309Tyr
NM_172056.2:c.925C>T , LRG_288t2:c.925C>T	NP_742053.1:p.His309Tyr
XM_011516185.1:c.625C>T	XP_011514487.1:p.His209Tyr
XM_011516186.1:c.925C>T	XP_011514488.1:p.His309Tyr
XM_011516185.2:c.625C>T	XP_011514487.1:p.His209Tyr
XM_011516186.3:c.925C>T	XP_011514488.1:p.His309Tyr
XM_017012195.1:c.775C>T	XP_016867684.1:p.His259Tyr
XM_017012196.1:c.748C>T	XP_016867685.1:p.His250Tyr
NM_000238.4:c.925C>T MANE Select	NP_000229.1:p.His309Tyr