Canonical Allele Identifier: CA458871680

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649717C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952629C>A , CM000669.2:g.150952629C>A	GRCh38
NC_000007.13:g.150649717C>A , CM000669.1:g.150649717C>A	GRCh37
NC_000007.12:g.150280650C>A	NCBI36
NG_008916.1:g.30298G>T , LRG_288:g.30298G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.651G>T
ENST00000684116.1:n.246G>T
ENST00000684241.1:n.2186G>T
ENST00000262186.10:c.1353G>T MANE Select	ENSP00000262186.5:p.Pro451=
ENST00000330883.9:c.333G>T	ENSP00000328531.4:p.Pro111=
ENST00000262186.9:c.1353G>T	ENSP00000262186.5:p.Pro451=
ENST00000330883.8:c.333G>T	ENSP00000328531.4:p.Pro111=
ENST00000430723.4:c.1005G>T	ENSP00000387657.4:p.Pro335=
ENST00000461280.1:n.640G>T
ENST00000473610.5:n.658G>T
ENST00000532957.5:n.1576G>T
NM_000238.3:c.1353G>T , LRG_288t1:c.1353G>T	NP_000229.1:p.Pro451=
NM_001204798.1:c.333G>T	NP_001191727.1:p.Pro111=
NM_172056.2:c.1353G>T , LRG_288t2:c.1353G>T	NP_742053.1:p.Pro451=
NM_172057.2:c.333G>T , LRG_288t3:c.333G>T	NP_742054.1:p.Pro111=
XM_011516185.1:c.1053G>T	XP_011514487.1:p.Pro351=
XM_011516186.1:c.1353G>T	XP_011514488.1:p.Pro451=
XM_011516185.2:c.1053G>T	XP_011514487.1:p.Pro351=
XM_011516186.3:c.1353G>T	XP_011514488.1:p.Pro451=
XM_017012195.1:c.1203G>T	XP_016867684.1:p.Pro401=
XM_017012196.1:c.1176G>T	XP_016867685.1:p.Pro392=
NM_000238.4:c.1353G>T MANE Select	NP_000229.1:p.Pro451=
NM_001204798.2:c.333G>T	NP_001191727.1:p.Pro111=
NM_172057.3:c.333G>T	NP_742054.1:p.Pro111=