Canonical Allele Identifier: CA369859934
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952633T>A , CM000669.2:g.150952633T>A GRCh38
NC_000007.13:g.150649721T>A , CM000669.1:g.150649721T>A GRCh37
NC_000007.12:g.150280654T>A NCBI36
NG_008916.1:g.30294A>T , LRG_288:g.30294A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.647A>T
ENST00000684116.1:n.242A>T
ENST00000684241.1:n.2182A>T
ENST00000262186.10:c.1349A>T MANE Select ENSP00000262186.5:p.Gln450Leu
ENST00000330883.9:c.329A>T ENSP00000328531.4:p.Gln110Leu
ENST00000262186.9:c.1349A>T ENSP00000262186.5:p.Gln450Leu
ENST00000330883.8:c.329A>T ENSP00000328531.4:p.Gln110Leu
ENST00000430723.4:c.1001A>T ENSP00000387657.4:p.Gln334Leu
ENST00000461280.1:n.636A>T
ENST00000473610.5:n.654A>T
ENST00000532957.5:n.1572A>T
NM_000238.3:c.1349A>T , LRG_288t1:c.1349A>T NP_000229.1:p.Gln450Leu
NM_001204798.1:c.329A>T NP_001191727.1:p.Gln110Leu
NM_172056.2:c.1349A>T , LRG_288t2:c.1349A>T NP_742053.1:p.Gln450Leu
NM_172057.2:c.329A>T , LRG_288t3:c.329A>T NP_742054.1:p.Gln110Leu
XM_011516185.1:c.1049A>T XP_011514487.1:p.Gln350Leu
XM_011516186.1:c.1349A>T XP_011514488.1:p.Gln450Leu
XM_011516185.2:c.1049A>T XP_011514487.1:p.Gln350Leu
XM_011516186.3:c.1349A>T XP_011514488.1:p.Gln450Leu
XM_017012195.1:c.1199A>T XP_016867684.1:p.Gln400Leu
XM_017012196.1:c.1172A>T XP_016867685.1:p.Gln391Leu
NM_000238.4:c.1349A>T MANE Select NP_000229.1:p.Gln450Leu
NM_001204798.2:c.329A>T NP_001191727.1:p.Gln110Leu
NM_172057.3:c.329A>T NP_742054.1:p.Gln110Leu