Canonical Allele Identifier: CA369856353

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647382A>T (hg19) ; chr7:g.150950294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950294A>T , CM000669.2:g.150950294A>T	GRCh38
NC_000007.13:g.150647382A>T , CM000669.1:g.150647382A>T	GRCh37
NC_000007.12:g.150278315A>T	NCBI36
NG_008916.1:g.32633T>A , LRG_288:g.32633T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1570T>A
ENST00000684241.1:n.3105T>A
ENST00000262186.10:c.2272T>A MANE Select	ENSP00000262186.5:p.Phe758Ile
ENST00000330883.9:c.1252T>A	ENSP00000328531.4:p.Phe418Ile
ENST00000262186.9:c.2272T>A	ENSP00000262186.5:p.Phe758Ile
ENST00000330883.8:c.1252T>A	ENSP00000328531.4:p.Phe418Ile
ENST00000430723.4:c.1924T>A	ENSP00000387657.4:p.Phe642Ile
ENST00000461280.1:n.1559T>A
ENST00000473610.5:n.1904T>A
ENST00000532957.5:n.2495T>A
NM_000238.3:c.2272T>A , LRG_288t1:c.2272T>A	NP_000229.1:p.Phe758Ile
NM_001204798.1:c.1252T>A	NP_001191727.1:p.Phe418Ile
NM_172056.2:c.2272T>A , LRG_288t2:c.2272T>A	NP_742053.1:p.Phe758Ile
NM_172057.2:c.1252T>A , LRG_288t3:c.1252T>A	NP_742054.1:p.Phe418Ile
XM_011516185.1:c.1972T>A	XP_011514487.1:p.Phe658Ile
XM_011516186.1:c.2272T>A	XP_011514488.1:p.Phe758Ile
XM_011516185.2:c.1972T>A	XP_011514487.1:p.Phe658Ile
XM_011516186.3:c.2272T>A	XP_011514488.1:p.Phe758Ile
XM_017012195.1:c.2122T>A	XP_016867684.1:p.Phe708Ile
XM_017012196.1:c.2095T>A	XP_016867685.1:p.Phe699Ile
NM_000238.4:c.2272T>A MANE Select	NP_000229.1:p.Phe758Ile
NM_001204798.2:c.1252T>A	NP_001191727.1:p.Phe418Ile
NM_172057.3:c.1252T>A	NP_742054.1:p.Phe418Ile