Canonical Allele Identifier: CA1752418850
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958510A= , CM000669.2:g.150958510A= GRCh38
NC_000007.13:g.150655598A= , CM000669.1:g.150655598A= GRCh37
NC_000007.12:g.150286531A= NCBI36
NG_008916.1:g.24417T= , LRG_288:g.24417T=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1306-8T=
ENST00000262186.10:c.473-8T= MANE Select ENSP00000262186.5:n.473-8T=
ENST00000262186.9:c.473-8T= ENSP00000262186.5:n.473-8T=
ENST00000430723.4:c.235-118T= ENSP00000387657.4:n.235-118T=
ENST00000532957.5:n.696-8T=
NM_000238.3:c.473-8T= , LRG_288t1:c.473-8T= NP_000229.1:n.473-8T=
NM_172056.2:c.473-8T= , LRG_288t2:c.473-8T= NP_742053.1:n.473-8T=
XM_011516185.1:c.173-8T= XP_011514487.1:n.173-8T=
XM_011516186.1:c.473-8T= XP_011514488.1:n.473-8T=
XM_011516185.2:c.173-8T= XP_011514487.1:n.173-8T=
XM_011516186.3:c.473-8T= XP_011514488.1:n.473-8T=
XM_017012195.1:c.323-8T= XP_016867684.1:n.323-8T=
XM_017012196.1:c.296-8T= XP_016867685.1:n.296-8T=
NM_000238.4:c.473-8T= MANE Select NP_000229.1:n.473-8T=