Canonical Allele Identifier: CA458871760

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1090250
• ClinVar RCV Id: RCV001409323
• dbSNP Id: rs1801931669
• gnomAD v4: 7-150974760-C-A
• MyVariant Identifiers: chr7:g.150671848C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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