Canonical Allele Identifier: CA369866777
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977904G>A , CM000669.2:g.150977904G>A GRCh38
NC_000007.13:g.150674992G>A , CM000669.1:g.150674992G>A GRCh37
NC_000007.12:g.150305925G>A NCBI36
NG_008916.1:g.5023C>T , LRG_288:g.5023C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.10C>T MANE Select ENSP00000262186.5:p.Arg4Trp
ENST00000262186.9:c.10C>T ENSP00000262186.5:p.Arg4Trp
ENST00000430723.4:c.-168C>T ENSP00000387657.4:n.-168C>T
ENST00000532957.5:n.233C>T
NM_000238.3:c.10C>T , LRG_288t1:c.10C>T NP_000229.1:p.Arg4Trp
NM_172056.2:c.10C>T , LRG_288t2:c.10C>T NP_742053.1:p.Arg4Trp
XM_011516186.1:c.10C>T XP_011514488.1:p.Arg4Trp
XM_011516186.3:c.10C>T XP_011514488.1:p.Arg4Trp
NM_000238.4:c.10C>T MANE Select NP_000229.1:p.Arg4Trp