Canonical Allele Identifier: CA006823

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67403
• ClinVar RCV Id: RCV000058127 ; RCV000181868
• dbSNP Id: rs199473002
• gnomAD v4: 7-150948971-G-A
• MyVariant Identifiers: chr7:g.150646059G>A (hg19) ; chr7:g.150948971G>A (hg38)
• PubMed: PMID:20541041 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948971G>A , CM000669.2:g.150948971G>A	GRCh38
NC_000007.13:g.150646059G>A , CM000669.1:g.150646059G>A	GRCh37
NC_000007.12:g.150276992G>A	NCBI36
NG_008916.1:g.33956C>T , LRG_288:g.33956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3310C>T
ENST00000262186.10:c.2477C>T MANE Select	ENSP00000262186.5:p.Thr826Ile
ENST00000330883.9:c.1457C>T	ENSP00000328531.4:p.Thr486Ile
ENST00000262186.9:c.2477C>T	ENSP00000262186.5:p.Thr826Ile
ENST00000330883.8:c.1457C>T	ENSP00000328531.4:p.Thr486Ile
NM_000238.3:c.2477C>T , LRG_288t1:c.2477C>T	NP_000229.1:p.Thr826Ile
NM_172057.2:c.1457C>T , LRG_288t3:c.1457C>T	NP_742054.1:p.Thr486Ile
XM_011516185.1:c.2177C>T	XP_011514487.1:p.Thr726Ile
XM_011516186.1:c.2477C>T	XP_011514488.1:p.Thr826Ile
XM_011516185.2:c.2177C>T	XP_011514487.1:p.Thr726Ile
XM_011516186.3:c.2477C>T	XP_011514488.1:p.Thr826Ile
XM_017012195.1:c.2327C>T	XP_016867684.1:p.Thr776Ile
XM_017012196.1:c.2300C>T	XP_016867685.1:p.Thr767Ile
NM_000238.4:c.2477C>T MANE Select	NP_000229.1:p.Thr826Ile
NM_172057.3:c.1457C>T	NP_742054.1:p.Thr486Ile