Canonical Allele Identifier: CA369862983

Gene: KCNH2

Linked Data

• dbSNP Id: rs1563170569
• gnomAD v4: 7-150958328-G-T
• MyVariant Identifiers: chr7:g.150655416G>T (hg19) ; chr7:g.150958328G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1480C>A
ENST00000262186.10:c.647C>A MANE Select	ENSP00000262186.5:p.Thr216Lys
ENST00000262186.9:c.647C>A	ENSP00000262186.5:p.Thr216Lys
ENST00000430723.4:c.299C>A	ENSP00000387657.4:p.Thr100Lys
ENST00000532957.5:n.870C>A
NM_000238.3:c.647C>A , LRG_288t1:c.647C>A	NP_000229.1:p.Thr216Lys
NM_172056.2:c.647C>A , LRG_288t2:c.647C>A	NP_742053.1:p.Thr216Lys
XM_011516185.1:c.347C>A	XP_011514487.1:p.Thr116Lys
XM_011516186.1:c.647C>A	XP_011514488.1:p.Thr216Lys
XM_011516185.2:c.347C>A	XP_011514487.1:p.Thr116Lys
XM_011516186.3:c.647C>A	XP_011514488.1:p.Thr216Lys
XM_017012195.1:c.497C>A	XP_016867684.1:p.Thr166Lys
XM_017012196.1:c.470C>A	XP_016867685.1:p.Thr157Lys
NM_000238.4:c.647C>A MANE Select	NP_000229.1:p.Thr216Lys