Canonical Allele Identifier: CA369853540

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1171262
• ClinVar RCV Id: RCV001842070
• dbSNP Id: rs1800975334
• MyVariant Identifiers: chr7:g.150644949C>T (hg19) ; chr7:g.150947861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947861C>T , CM000669.2:g.150947861C>T	GRCh38
NC_000007.13:g.150644949C>T , CM000669.1:g.150644949C>T	GRCh37
NC_000007.12:g.150275882C>T	NCBI36
NG_008916.1:g.35066G>A , LRG_288:g.35066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3543G>A
ENST00000262186.10:c.2710G>A MANE Select	ENSP00000262186.5:p.Glu904Lys
ENST00000330883.9:c.1690G>A	ENSP00000328531.4:p.Glu564Lys
ENST00000262186.9:c.2710G>A	ENSP00000262186.5:p.Glu904Lys
ENST00000330883.8:c.1690G>A	ENSP00000328531.4:p.Glu564Lys
NM_000238.3:c.2710G>A , LRG_288t1:c.2710G>A	NP_000229.1:p.Glu904Lys
NM_172057.2:c.1690G>A , LRG_288t3:c.1690G>A	NP_742054.1:p.Glu564Lys
XM_011516185.1:c.2410G>A	XP_011514487.1:p.Glu804Lys
XM_011516186.1:c.2693-170G>A	XP_011514488.1:n.2693-170G>A
XM_011516185.2:c.2410G>A	XP_011514487.1:p.Glu804Lys
XM_011516186.3:c.2693-170G>A	XP_011514488.1:n.2693-170G>A
XM_017012195.1:c.2560G>A	XP_016867684.1:p.Glu854Lys
XM_017012196.1:c.2533G>A	XP_016867685.1:p.Glu845Lys
NM_000238.4:c.2710G>A MANE Select	NP_000229.1:p.Glu904Lys
NM_172057.3:c.1690G>A	NP_742054.1:p.Glu564Lys