Canonical Allele Identifier: CA369855534

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647043T>A (hg19) ; chr7:g.150949955T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949955T>A , CM000669.2:g.150949955T>A	GRCh38
NC_000007.13:g.150647043T>A , CM000669.1:g.150647043T>A	GRCh37
NC_000007.12:g.150277976T>A	NCBI36
NG_008916.1:g.32972A>T , LRG_288:g.32972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1909A>T
ENST00000684241.1:n.3231+213A>T
ENST00000262186.10:c.2398+213A>T MANE Select	ENSP00000262186.5:n.2398+213A>T
ENST00000330883.9:c.1378+213A>T	ENSP00000328531.4:n.1378+213A>T
ENST00000262186.9:c.2398+213A>T	ENSP00000262186.5:n.2398+213A>T
ENST00000330883.8:c.1378+213A>T	ENSP00000328531.4:n.1378+213A>T
ENST00000430723.4:c.2263A>T	ENSP00000387657.4:p.Ile755Phe
ENST00000461280.1:n.1898A>T
ENST00000473610.5:n.2243A>T
ENST00000532957.5:n.2834A>T
NM_000238.3:c.2398+213A>T , LRG_288t1:c.2398+213A>T	NP_000229.1:n.2398+213A>T
NM_001204798.1:c.1591A>T	NP_001191727.1:p.Ile531Phe
NM_172056.2:c.2611A>T , LRG_288t2:c.2611A>T	NP_742053.1:p.Ile871Phe
NM_172057.2:c.1378+213A>T , LRG_288t3:c.1378+213A>T	NP_742054.1:n.1378+213A>T
XM_011516185.1:c.2098+213A>T	XP_011514487.1:n.2098+213A>T
XM_011516186.1:c.2398+213A>T	XP_011514488.1:n.2398+213A>T
XM_011516185.2:c.2098+213A>T	XP_011514487.1:n.2098+213A>T
XM_011516186.3:c.2398+213A>T	XP_011514488.1:n.2398+213A>T
XM_017012195.1:c.2248+213A>T	XP_016867684.1:n.2248+213A>T
XM_017012196.1:c.2221+213A>T	XP_016867685.1:n.2221+213A>T
NM_000238.4:c.2398+213A>T MANE Select	NP_000229.1:n.2398+213A>T
NM_001204798.2:c.1591A>T	NP_001191727.1:p.Ile531Phe
NM_172057.3:c.1378+213A>T	NP_742054.1:n.1378+213A>T