Canonical Allele Identifier: CA369852660

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1059933
• ClinVar RCV Id: RCV001369297
• dbSNP Id: rs750858069
• gnomAD v4: 7-150947382-C-A
• MyVariant Identifiers: chr7:g.150644470C>A (hg19) ; chr7:g.150947382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947382C>A , CM000669.2:g.150947382C>A	GRCh38
NC_000007.13:g.150644470C>A , CM000669.1:g.150644470C>A	GRCh37
NC_000007.12:g.150275403C>A	NCBI36
NG_008916.1:g.35545G>T , LRG_288:g.35545G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3931G>T
ENST00000262186.10:c.3098G>T MANE Select	ENSP00000262186.5:p.Arg1033Leu
ENST00000330883.9:c.2078G>T	ENSP00000328531.4:p.Arg693Leu
ENST00000262186.9:c.3098G>T	ENSP00000262186.5:p.Arg1033Leu
ENST00000330883.8:c.2078G>T	ENSP00000328531.4:p.Arg693Leu
NM_000238.3:c.3098G>T , LRG_288t1:c.3098G>T	NP_000229.1:p.Arg1033Leu
NM_172057.2:c.2078G>T , LRG_288t3:c.2078G>T	NP_742054.1:p.Arg693Leu
XM_011516185.1:c.2798G>T	XP_011514487.1:p.Arg933Leu
XM_011516185.2:c.2798G>T	XP_011514487.1:p.Arg933Leu
XM_017012195.1:c.2948G>T	XP_016867684.1:p.Arg983Leu
XM_017012196.1:c.2921G>T	XP_016867685.1:p.Arg974Leu
NM_000238.4:c.3098G>T MANE Select	NP_000229.1:p.Arg1033Leu
NM_172057.3:c.2078G>T	NP_742054.1:p.Arg693Leu