Canonical Allele Identifier: CA369861424
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957299C>A , CM000669.2:g.150957299C>A GRCh38
NC_000007.13:g.150654387C>A , CM000669.1:g.150654387C>A GRCh37
NC_000007.12:g.150285320C>A NCBI36
NG_008916.1:g.25628G>T , LRG_288:g.25628G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1953G>T
ENST00000262186.10:c.1120G>T MANE Select ENSP00000262186.5:p.Val374Phe
ENST00000262186.9:c.1120G>T ENSP00000262186.5:p.Val374Phe
ENST00000430723.4:c.772G>T ENSP00000387657.4:p.Val258Phe
ENST00000532957.5:n.1343G>T
NM_000238.3:c.1120G>T , LRG_288t1:c.1120G>T NP_000229.1:p.Val374Phe
NM_172056.2:c.1120G>T , LRG_288t2:c.1120G>T NP_742053.1:p.Val374Phe
XM_011516185.1:c.820G>T XP_011514487.1:p.Val274Phe
XM_011516186.1:c.1120G>T XP_011514488.1:p.Val374Phe
XM_011516185.2:c.820G>T XP_011514487.1:p.Val274Phe
XM_011516186.3:c.1120G>T XP_011514488.1:p.Val374Phe
XM_017012195.1:c.970G>T XP_016867684.1:p.Val324Phe
XM_017012196.1:c.943G>T XP_016867685.1:p.Val315Phe
NM_000238.4:c.1120G>T MANE Select NP_000229.1:p.Val374Phe