Canonical Allele Identifier: CA007008

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948866T>A , CM000669.2:g.150948866T>A	GRCh38
NC_000007.13:g.150645954T>A , CM000669.1:g.150645954T>A	GRCh37
NC_000007.12:g.150276887T>A	NCBI36
NG_008916.1:g.34061A>T , LRG_288:g.34061A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2582A>T MANE Select	NP_000229.1:p.Asn861Ile
ENST00000262186.10:c.2582A>T MANE Select	ENSP00000262186.5:p.Asn861Ile
NM_000238.3:c.2582A>T , LRG_288t1:c.2582A>T	NP_000229.1:p.Asn861Ile
NM_172057.2:c.1562A>T , LRG_288t3:c.1562A>T	NP_742054.1:p.Asn521Ile
NM_172057.3:c.1562A>T	NP_742054.1:p.Asn521Ile
ENST00000262186.9:c.2582A>T	ENSP00000262186.5:p.Asn861Ile
ENST00000330883.8:c.1562A>T	ENSP00000328531.4:p.Asn521Ile
ENST00000330883.9:c.1562A>T	ENSP00000328531.4:p.Asn521Ile
ENST00000684241.1:n.3415A>T
XM_011516185.1:c.2282A>T	XP_011514487.1:p.Asn761Ile
XM_011516185.2:c.2282A>T	XP_011514487.1:p.Asn761Ile
XM_011516186.1:c.2582A>T	XP_011514488.1:p.Asn861Ile
XM_011516186.3:c.2582A>T	XP_011514488.1:p.Asn861Ile
XM_017012195.1:c.2432A>T	XP_016867684.1:p.Asn811Ile
XM_017012196.1:c.2405A>T	XP_016867685.1:p.Asn802Ile