Canonical Allele Identifier: CA458645192

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646085C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948997C>T , CM000669.2:g.150948997C>T	GRCh38
NC_000007.13:g.150646085C>T , CM000669.1:g.150646085C>T	GRCh37
NC_000007.12:g.150277018C>T	NCBI36
NG_008916.1:g.33930G>A , LRG_288:g.33930G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3284G>A
ENST00000262186.10:c.2451G>A MANE Select	ENSP00000262186.5:p.Lys817=
ENST00000330883.9:c.1431G>A	ENSP00000328531.4:p.Lys477=
ENST00000262186.9:c.2451G>A	ENSP00000262186.5:p.Lys817=
ENST00000330883.8:c.1431G>A	ENSP00000328531.4:p.Lys477=
NM_000238.3:c.2451G>A , LRG_288t1:c.2451G>A	NP_000229.1:p.Lys817=
NM_172057.2:c.1431G>A , LRG_288t3:c.1431G>A	NP_742054.1:p.Lys477=
XM_011516185.1:c.2151G>A	XP_011514487.1:p.Lys717=
XM_011516186.1:c.2451G>A	XP_011514488.1:p.Lys817=
XM_011516185.2:c.2151G>A	XP_011514487.1:p.Lys717=
XM_011516186.3:c.2451G>A	XP_011514488.1:p.Lys817=
XM_017012195.1:c.2301G>A	XP_016867684.1:p.Lys767=
XM_017012196.1:c.2274G>A	XP_016867685.1:p.Lys758=
NM_000238.4:c.2451G>A MANE Select	NP_000229.1:p.Lys817=
NM_172057.3:c.1431G>A	NP_742054.1:p.Lys477=