Canonical Allele Identifier: CA458871761

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1171428
• ClinVar RCV Id: RCV001842088
• dbSNP Id: rs1801931669
• gnomAD v4: 7-150974760-C-T
• MyVariant Identifiers: chr7:g.150671848C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974760C>T , CM000669.2:g.150974760C>T	GRCh38
NC_000007.13:g.150671848C>T , CM000669.1:g.150671848C>T	GRCh37
NC_000007.12:g.150302781C>T	NCBI36
NG_008916.1:g.8167G>A , LRG_288:g.8167G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.258G>A MANE Select	ENSP00000262186.5:p.Leu86=
ENST00000262186.9:c.258G>A	ENSP00000262186.5:p.Leu86=
ENST00000430723.4:c.81G>A	ENSP00000387657.4:p.Leu27=
ENST00000532957.5:n.481G>A
NM_000238.3:c.258G>A , LRG_288t1:c.258G>A	NP_000229.1:p.Leu86=
NM_172056.2:c.258G>A , LRG_288t2:c.258G>A	NP_742053.1:p.Leu86=
XM_011516186.1:c.258G>A	XP_011514488.1:p.Leu86=
XM_011516186.3:c.258G>A	XP_011514488.1:p.Leu86=
XM_017012196.1:c.81G>A	XP_016867685.1:p.Leu27=
NM_000238.4:c.258G>A MANE Select	NP_000229.1:p.Leu86=