Canonical Allele Identifier: CA369866765
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977898C>G , CM000669.2:g.150977898C>G GRCh38
NC_000007.13:g.150674986C>G , CM000669.1:g.150674986C>G GRCh37
NC_000007.12:g.150305919C>G NCBI36
NG_008916.1:g.5029G>C , LRG_288:g.5029G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.16G>C MANE Select ENSP00000262186.5:p.Gly6Arg
ENST00000262186.9:c.16G>C ENSP00000262186.5:p.Gly6Arg
ENST00000430723.4:c.-162G>C ENSP00000387657.4:n.-162G>C
ENST00000532957.5:n.239G>C
NM_000238.3:c.16G>C , LRG_288t1:c.16G>C NP_000229.1:p.Gly6Arg
NM_172056.2:c.16G>C , LRG_288t2:c.16G>C NP_742053.1:p.Gly6Arg
XM_011516186.1:c.16G>C XP_011514488.1:p.Gly6Arg
XM_011516186.3:c.16G>C XP_011514488.1:p.Gly6Arg
NM_000238.4:c.16G>C MANE Select NP_000229.1:p.Gly6Arg