Canonical Allele Identifier: CA029273

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951680G>A , CM000669.2:g.150951680G>A	GRCh38
NC_000007.13:g.150648768G>A , CM000669.1:g.150648768G>A	GRCh37
NC_000007.12:g.150279701G>A	NCBI36
NG_008916.1:g.31247C>T , LRG_288:g.31247C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1713C>T MANE Select	NP_000229.1:p.Ile571=
ENST00000262186.10:c.1713C>T MANE Select	ENSP00000262186.5:p.Ile571=
NM_000238.3:c.1713C>T , LRG_288t1:c.1713C>T	NP_000229.1:p.Ile571=
NM_001204798.1:c.693C>T	NP_001191727.1:p.Ile231=
NM_001204798.2:c.693C>T	NP_001191727.1:p.Ile231=
NM_172056.2:c.1713C>T , LRG_288t2:c.1713C>T	NP_742053.1:p.Ile571=
NM_172057.2:c.693C>T , LRG_288t3:c.693C>T	NP_742054.1:p.Ile231=
NM_172057.3:c.693C>T	NP_742054.1:p.Ile231=
ENST00000262186.9:c.1713C>T	ENSP00000262186.5:p.Ile571=
ENST00000330883.8:c.693C>T	ENSP00000328531.4:p.Ile231=
ENST00000330883.9:c.693C>T	ENSP00000328531.4:p.Ile231=
ENST00000430723.4:c.1365C>T	ENSP00000387657.4:p.Ile455=
ENST00000461280.1:n.1000C>T
ENST00000461280.2:n.1011C>T
ENST00000473610.5:n.1018C>T
ENST00000532957.5:n.1936C>T
ENST00000684241.1:n.2546C>T
XM_011516185.1:c.1413C>T	XP_011514487.1:p.Ile471=
XM_011516185.2:c.1413C>T	XP_011514487.1:p.Ile471=
XM_011516186.1:c.1713C>T	XP_011514488.1:p.Ile571=
XM_011516186.3:c.1713C>T	XP_011514488.1:p.Ile571=
XM_017012195.1:c.1563C>T	XP_016867684.1:p.Ile521=
XM_017012196.1:c.1536C>T	XP_016867685.1:p.Ile512=