Canonical Allele Identifier: CA1752420121
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959723T= , CM000669.2:g.150959723T= GRCh38
NC_000007.13:g.150656811T= , CM000669.1:g.150656811T= GRCh37
NC_000007.12:g.150287744T= NCBI36
NG_008916.1:g.23204A= , LRG_288:g.23204A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1154A=
ENST00000262186.10:c.321A= MANE Select ENSP00000262186.5:p.Leu107=
ENST00000262186.9:c.321A= ENSP00000262186.5:p.Leu107=
ENST00000430723.4:c.144A= ENSP00000387657.4:p.Leu48=
ENST00000532957.5:n.544A=
NM_000238.3:c.321A= , LRG_288t1:c.321A= NP_000229.1:p.Leu107=
NM_172056.2:c.321A= , LRG_288t2:c.321A= NP_742053.1:p.Leu107=
XM_011516185.1:c.21A= XP_011514487.1:p.Leu7=
XM_011516186.1:c.321A= XP_011514488.1:p.Leu107=
XM_011516185.2:c.21A= XP_011514487.1:p.Leu7=
XM_011516186.3:c.321A= XP_011514488.1:p.Leu107=
XM_017012195.1:c.171A= XP_016867684.1:p.Leu57=
XM_017012196.1:c.144A= XP_016867685.1:p.Leu48=
NM_000238.4:c.321A= MANE Select NP_000229.1:p.Leu107=