Canonical Allele Identifier: CA369865390

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1472758
• ClinVar RCV Id: RCV001977218
• dbSNP Id: rs1299190345
• MyVariant Identifiers: chr7:g.150671834T>A (hg19) ; chr7:g.150974746T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974746T>A , CM000669.2:g.150974746T>A	GRCh38
NC_000007.13:g.150671834T>A , CM000669.1:g.150671834T>A	GRCh37
NC_000007.12:g.150302767T>A	NCBI36
NG_008916.1:g.8181A>T , LRG_288:g.8181A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.272A>T MANE Select	ENSP00000262186.5:p.Glu91Val
ENST00000262186.9:c.272A>T	ENSP00000262186.5:p.Glu91Val
ENST00000430723.4:c.95A>T	ENSP00000387657.4:p.Glu32Val
ENST00000532957.5:n.495A>T
NM_000238.3:c.272A>T , LRG_288t1:c.272A>T	NP_000229.1:p.Glu91Val
NM_172056.2:c.272A>T , LRG_288t2:c.272A>T	NP_742053.1:p.Glu91Val
XM_011516186.1:c.272A>T	XP_011514488.1:p.Glu91Val
XM_011516186.3:c.272A>T	XP_011514488.1:p.Glu91Val
XM_017012196.1:c.95A>T	XP_016867685.1:p.Glu32Val
NM_000238.4:c.272A>T MANE Select	NP_000229.1:p.Glu91Val