Canonical Allele Identifier: CA1752418956
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958560A= , CM000669.2:g.150958560A= GRCh38
NC_000007.13:g.150655648A= , CM000669.1:g.150655648A= GRCh37
NC_000007.12:g.150286581A= NCBI36
NG_008916.1:g.24367T= , LRG_288:g.24367T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-58T=
ENST00000262186.10:c.473-58T= MANE Select ENSP00000262186.5:n.473-58T=
ENST00000262186.9:c.473-58T= ENSP00000262186.5:n.473-58T=
ENST00000430723.4:c.235-168T= ENSP00000387657.4:n.235-168T=
ENST00000532957.5:n.696-58T=
NM_000238.3:c.473-58T= , LRG_288t1:c.473-58T= NP_000229.1:n.473-58T=
NM_172056.2:c.473-58T= , LRG_288t2:c.473-58T= NP_742053.1:n.473-58T=
XM_011516185.1:c.173-58T= XP_011514487.1:n.173-58T=
XM_011516186.1:c.473-58T= XP_011514488.1:n.473-58T=
XM_011516185.2:c.173-58T= XP_011514487.1:n.173-58T=
XM_011516186.3:c.473-58T= XP_011514488.1:n.473-58T=
XM_017012195.1:c.323-58T= XP_016867684.1:n.323-58T=
XM_017012196.1:c.296-58T= XP_016867685.1:n.296-58T=
NM_000238.4:c.473-58T= MANE Select NP_000229.1:n.473-58T=