Canonical Allele Identifier: CA369859559

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649554T>A (hg19) ; chr7:g.150952466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952466T>A , CM000669.2:g.150952466T>A	GRCh38
NC_000007.13:g.150649554T>A , CM000669.1:g.150649554T>A	GRCh37
NC_000007.12:g.150280487T>A	NCBI36
NG_008916.1:g.30461A>T , LRG_288:g.30461A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.814A>T
ENST00000684116.1:n.409A>T
ENST00000684241.1:n.2349A>T
ENST00000262186.10:c.1516A>T MANE Select	ENSP00000262186.5:p.Ile506Phe
ENST00000330883.9:c.496A>T	ENSP00000328531.4:p.Ile166Phe
ENST00000262186.9:c.1516A>T	ENSP00000262186.5:p.Ile506Phe
ENST00000330883.8:c.496A>T	ENSP00000328531.4:p.Ile166Phe
ENST00000430723.4:c.1168A>T	ENSP00000387657.4:p.Ile390Phe
ENST00000461280.1:n.803A>T
ENST00000473610.5:n.821A>T
ENST00000532957.5:n.1739A>T
NM_000238.3:c.1516A>T , LRG_288t1:c.1516A>T	NP_000229.1:p.Ile506Phe
NM_001204798.1:c.496A>T	NP_001191727.1:p.Ile166Phe
NM_172056.2:c.1516A>T , LRG_288t2:c.1516A>T	NP_742053.1:p.Ile506Phe
NM_172057.2:c.496A>T , LRG_288t3:c.496A>T	NP_742054.1:p.Ile166Phe
XM_011516185.1:c.1216A>T	XP_011514487.1:p.Ile406Phe
XM_011516186.1:c.1516A>T	XP_011514488.1:p.Ile506Phe
XM_011516185.2:c.1216A>T	XP_011514487.1:p.Ile406Phe
XM_011516186.3:c.1516A>T	XP_011514488.1:p.Ile506Phe
XM_017012195.1:c.1366A>T	XP_016867684.1:p.Ile456Phe
XM_017012196.1:c.1339A>T	XP_016867685.1:p.Ile447Phe
NM_000238.4:c.1516A>T MANE Select	NP_000229.1:p.Ile506Phe
NM_001204798.2:c.496A>T	NP_001191727.1:p.Ile166Phe
NM_172057.3:c.496A>T	NP_742054.1:p.Ile166Phe