Canonical Allele Identifier: CA369859995

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649751G>T (hg19) ; chr7:g.150952663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952663G>T , CM000669.2:g.150952663G>T	GRCh38
NC_000007.13:g.150649751G>T , CM000669.1:g.150649751G>T	GRCh37
NC_000007.12:g.150280684G>T	NCBI36
NG_008916.1:g.30264C>A , LRG_288:g.30264C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.617C>A
ENST00000684116.1:n.212C>A
ENST00000684241.1:n.2152C>A
ENST00000262186.10:c.1319C>A MANE Select	ENSP00000262186.5:p.Pro440Gln
ENST00000330883.9:c.299C>A	ENSP00000328531.4:p.Pro100Gln
ENST00000262186.9:c.1319C>A	ENSP00000262186.5:p.Pro440Gln
ENST00000330883.8:c.299C>A	ENSP00000328531.4:p.Pro100Gln
ENST00000430723.4:c.971C>A	ENSP00000387657.4:p.Pro324Gln
ENST00000461280.1:n.606C>A
ENST00000473610.5:n.624C>A
ENST00000532957.5:n.1542C>A
NM_000238.3:c.1319C>A , LRG_288t1:c.1319C>A	NP_000229.1:p.Pro440Gln
NM_001204798.1:c.299C>A	NP_001191727.1:p.Pro100Gln
NM_172056.2:c.1319C>A , LRG_288t2:c.1319C>A	NP_742053.1:p.Pro440Gln
NM_172057.2:c.299C>A , LRG_288t3:c.299C>A	NP_742054.1:p.Pro100Gln
XM_011516185.1:c.1019C>A	XP_011514487.1:p.Pro340Gln
XM_011516186.1:c.1319C>A	XP_011514488.1:p.Pro440Gln
XM_011516185.2:c.1019C>A	XP_011514487.1:p.Pro340Gln
XM_011516186.3:c.1319C>A	XP_011514488.1:p.Pro440Gln
XM_017012195.1:c.1169C>A	XP_016867684.1:p.Pro390Gln
XM_017012196.1:c.1142C>A	XP_016867685.1:p.Pro381Gln
NM_000238.4:c.1319C>A MANE Select	NP_000229.1:p.Pro440Gln
NM_001204798.2:c.299C>A	NP_001191727.1:p.Pro100Gln
NM_172057.3:c.299C>A	NP_742054.1:p.Pro100Gln