Canonical Allele Identifier: CA070274

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1585806
• ClinVar RCV Id: RCV002104681
• dbSNP Id: rs2116969628
• MyVariant Identifiers: chr7:g.150649588G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952500G>A , CM000669.2:g.150952500G>A	GRCh38
NC_000007.13:g.150649588G>A , CM000669.1:g.150649588G>A	GRCh37
NC_000007.12:g.150280521G>A	NCBI36
NG_008916.1:g.30427C>T , LRG_288:g.30427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.780C>T
ENST00000684116.1:n.375C>T
ENST00000684241.1:n.2315C>T
ENST00000262186.10:c.1482C>T MANE Select	ENSP00000262186.5:p.Phe494=
ENST00000330883.9:c.462C>T	ENSP00000328531.4:p.Phe154=
ENST00000262186.9:c.1482C>T	ENSP00000262186.5:p.Phe494=
ENST00000330883.8:c.462C>T	ENSP00000328531.4:p.Phe154=
ENST00000430723.4:c.1134C>T	ENSP00000387657.4:p.Phe378=
ENST00000461280.1:n.769C>T
ENST00000473610.5:n.787C>T
ENST00000532957.5:n.1705C>T
NM_000238.3:c.1482C>T , LRG_288t1:c.1482C>T	NP_000229.1:p.Phe494=
NM_001204798.1:c.462C>T	NP_001191727.1:p.Phe154=
NM_172056.2:c.1482C>T , LRG_288t2:c.1482C>T	NP_742053.1:p.Phe494=
NM_172057.2:c.462C>T , LRG_288t3:c.462C>T	NP_742054.1:p.Phe154=
XM_011516185.1:c.1182C>T	XP_011514487.1:p.Phe394=
XM_011516186.1:c.1482C>T	XP_011514488.1:p.Phe494=
XM_011516185.2:c.1182C>T	XP_011514487.1:p.Phe394=
XM_011516186.3:c.1482C>T	XP_011514488.1:p.Phe494=
XM_017012195.1:c.1332C>T	XP_016867684.1:p.Phe444=
XM_017012196.1:c.1305C>T	XP_016867685.1:p.Phe435=
NM_000238.4:c.1482C>T MANE Select	NP_000229.1:p.Phe494=
NM_001204798.2:c.462C>T	NP_001191727.1:p.Phe154=
NM_172057.3:c.462C>T	NP_742054.1:p.Phe154=