Canonical Allele Identifier: CA008949

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67539
• ClinVar RCV Id: RCV002490649
• dbSNP Id: rs199473549
• gnomAD v4: 7-150958094-C-A
• MyVariant Identifiers: chr7:g.150655182C>A (hg19) ; chr7:g.150958094C>A (hg38)
• PubMed: PMID:15913580 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958094C>A , CM000669.2:g.150958094C>A	GRCh38
NC_000007.13:g.150655182C>A , CM000669.1:g.150655182C>A	GRCh37
NC_000007.12:g.150286115C>A	NCBI36
NG_008916.1:g.24833G>T , LRG_288:g.24833G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1714G>T
ENST00000262186.10:c.881G>T MANE Select	ENSP00000262186.5:p.Gly294Val
ENST00000262186.9:c.881G>T	ENSP00000262186.5:p.Gly294Val
ENST00000430723.4:c.533G>T	ENSP00000387657.4:p.Gly178Val
ENST00000532957.5:n.1104G>T
NM_000238.3:c.881G>T , LRG_288t1:c.881G>T	NP_000229.1:p.Gly294Val
NM_172056.2:c.881G>T , LRG_288t2:c.881G>T	NP_742053.1:p.Gly294Val
XM_011516185.1:c.581G>T	XP_011514487.1:p.Gly194Val
XM_011516186.1:c.881G>T	XP_011514488.1:p.Gly294Val
XM_011516185.2:c.581G>T	XP_011514487.1:p.Gly194Val
XM_011516186.3:c.881G>T	XP_011514488.1:p.Gly294Val
XM_017012195.1:c.731G>T	XP_016867684.1:p.Gly244Val
XM_017012196.1:c.704G>T	XP_016867685.1:p.Gly235Val
NM_000238.4:c.881G>T MANE Select	NP_000229.1:p.Gly294Val