Canonical Allele Identifier: CA369857348

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950935T>A , CM000669.2:g.150950935T>A	GRCh38
NC_000007.13:g.150648023T>A , CM000669.1:g.150648023T>A	GRCh37
NC_000007.12:g.150278956T>A	NCBI36
NG_008916.1:g.31992A>T , LRG_288:g.31992A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2131A>T MANE Select	NP_000229.1:p.Ile711Phe
ENST00000262186.10:c.2131A>T MANE Select	ENSP00000262186.5:p.Ile711Phe
NM_000238.3:c.2131A>T , LRG_288t1:c.2131A>T	NP_000229.1:p.Ile711Phe
NM_001204798.1:c.1111A>T	NP_001191727.1:p.Ile371Phe
NM_001204798.2:c.1111A>T	NP_001191727.1:p.Ile371Phe
NM_172056.2:c.2131A>T , LRG_288t2:c.2131A>T	NP_742053.1:p.Ile711Phe
NM_172057.2:c.1111A>T , LRG_288t3:c.1111A>T	NP_742054.1:p.Ile371Phe
NM_172057.3:c.1111A>T	NP_742054.1:p.Ile371Phe
ENST00000262186.9:c.2131A>T	ENSP00000262186.5:p.Ile711Phe
ENST00000330883.8:c.1111A>T	ENSP00000328531.4:p.Ile371Phe
ENST00000330883.9:c.1111A>T	ENSP00000328531.4:p.Ile371Phe
ENST00000430723.4:c.1783A>T	ENSP00000387657.4:p.Ile595Phe
ENST00000461280.1:n.1418A>T
ENST00000461280.2:n.1429A>T
ENST00000473610.5:n.1763A>T
ENST00000532957.5:n.2354A>T
ENST00000683359.1:n.255A>T
ENST00000684241.1:n.2964A>T
XM_011516185.1:c.1831A>T	XP_011514487.1:p.Ile611Phe
XM_011516185.2:c.1831A>T	XP_011514487.1:p.Ile611Phe
XM_011516186.1:c.2131A>T	XP_011514488.1:p.Ile711Phe
XM_011516186.3:c.2131A>T	XP_011514488.1:p.Ile711Phe
XM_017012195.1:c.1981A>T	XP_016867684.1:p.Ile661Phe
XM_017012196.1:c.1954A>T	XP_016867685.1:p.Ile652Phe