Canonical Allele Identifier: CA369861673

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957416G>A , CM000669.2:g.150957416G>A	GRCh38
NC_000007.13:g.150654504G>A , CM000669.1:g.150654504G>A	GRCh37
NC_000007.12:g.150285437G>A	NCBI36
NG_008916.1:g.25511C>T , LRG_288:g.25511C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1003C>T MANE Select	NP_000229.1:p.Gln335Ter
ENST00000262186.10:c.1003C>T MANE Select	ENSP00000262186.5:p.Gln335Ter
NM_000238.3:c.1003C>T , LRG_288t1:c.1003C>T	NP_000229.1:p.Gln335Ter
NM_172056.2:c.1003C>T , LRG_288t2:c.1003C>T	NP_742053.1:p.Gln335Ter
ENST00000262186.9:c.1003C>T	ENSP00000262186.5:p.Gln335Ter
ENST00000430723.4:c.655C>T	ENSP00000387657.4:p.Gln219Ter
ENST00000532957.5:n.1226C>T
ENST00000684241.1:n.1836C>T
XM_011516185.1:c.703C>T	XP_011514487.1:p.Gln235Ter
XM_011516185.2:c.703C>T	XP_011514487.1:p.Gln235Ter
XM_011516186.1:c.1003C>T	XP_011514488.1:p.Gln335Ter
XM_011516186.3:c.1003C>T	XP_011514488.1:p.Gln335Ter
XM_017012195.1:c.853C>T	XP_016867684.1:p.Gln285Ter
XM_017012196.1:c.826C>T	XP_016867685.1:p.Gln276Ter