Canonical Allele Identifier: CA1752418933
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958550G= , CM000669.2:g.150958550G= GRCh38
NC_000007.13:g.150655638G= , CM000669.1:g.150655638G= GRCh37
NC_000007.12:g.150286571G= NCBI36
NG_008916.1:g.24377C= , LRG_288:g.24377C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-48C=
ENST00000262186.10:c.473-48C= MANE Select ENSP00000262186.5:n.473-48C=
ENST00000262186.9:c.473-48C= ENSP00000262186.5:n.473-48C=
ENST00000430723.4:c.235-158C= ENSP00000387657.4:n.235-158C=
ENST00000532957.5:n.696-48C=
NM_000238.3:c.473-48C= , LRG_288t1:c.473-48C= NP_000229.1:n.473-48C=
NM_172056.2:c.473-48C= , LRG_288t2:c.473-48C= NP_742053.1:n.473-48C=
XM_011516185.1:c.173-48C= XP_011514487.1:n.173-48C=
XM_011516186.1:c.473-48C= XP_011514488.1:n.473-48C=
XM_011516185.2:c.173-48C= XP_011514487.1:n.173-48C=
XM_011516186.3:c.473-48C= XP_011514488.1:n.473-48C=
XM_017012195.1:c.323-48C= XP_016867684.1:n.323-48C=
XM_017012196.1:c.296-48C= XP_016867685.1:n.296-48C=
NM_000238.4:c.473-48C= MANE Select NP_000229.1:n.473-48C=