Canonical Allele Identifier: CA369862979

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 582107
• ClinVar RCV Id: RCV000706092
• dbSNP Id: rs1563170569
• gnomAD v4: 7-150958328-G-A
• MyVariant Identifiers: chr7:g.150655416G>A (hg19) ; chr7:g.150958328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958328G>A , CM000669.2:g.150958328G>A	GRCh38
NC_000007.13:g.150655416G>A , CM000669.1:g.150655416G>A	GRCh37
NC_000007.12:g.150286349G>A	NCBI36
NG_008916.1:g.24599C>T , LRG_288:g.24599C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1480C>T
ENST00000262186.10:c.647C>T MANE Select	ENSP00000262186.5:p.Thr216Ile
ENST00000262186.9:c.647C>T	ENSP00000262186.5:p.Thr216Ile
ENST00000430723.4:c.299C>T	ENSP00000387657.4:p.Thr100Ile
ENST00000532957.5:n.870C>T
NM_000238.3:c.647C>T , LRG_288t1:c.647C>T	NP_000229.1:p.Thr216Ile
NM_172056.2:c.647C>T , LRG_288t2:c.647C>T	NP_742053.1:p.Thr216Ile
XM_011516185.1:c.347C>T	XP_011514487.1:p.Thr116Ile
XM_011516186.1:c.647C>T	XP_011514488.1:p.Thr216Ile
XM_011516185.2:c.347C>T	XP_011514487.1:p.Thr116Ile
XM_011516186.3:c.647C>T	XP_011514488.1:p.Thr216Ile
XM_017012195.1:c.497C>T	XP_016867684.1:p.Thr166Ile
XM_017012196.1:c.470C>T	XP_016867685.1:p.Thr157Ile
NM_000238.4:c.647C>T MANE Select	NP_000229.1:p.Thr216Ile