Canonical Allele Identifier: CA1752416620
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957312A= , CM000669.2:g.150957312A= GRCh38
NC_000007.13:g.150654400A= , CM000669.1:g.150654400A= GRCh37
NC_000007.12:g.150285333A= NCBI36
NG_008916.1:g.25615T= , LRG_288:g.25615T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1940T=
ENST00000262186.10:c.1107T= MANE Select ENSP00000262186.5:p.Asn369=
ENST00000262186.9:c.1107T= ENSP00000262186.5:p.Asn369=
ENST00000430723.4:c.759T= ENSP00000387657.4:p.Asn253=
ENST00000532957.5:n.1330T=
NM_000238.3:c.1107T= , LRG_288t1:c.1107T= NP_000229.1:p.Asn369=
NM_172056.2:c.1107T= , LRG_288t2:c.1107T= NP_742053.1:p.Asn369=
XM_011516185.1:c.807T= XP_011514487.1:p.Asn269=
XM_011516186.1:c.1107T= XP_011514488.1:p.Asn369=
XM_011516185.2:c.807T= XP_011514487.1:p.Asn269=
XM_011516186.3:c.1107T= XP_011514488.1:p.Asn369=
XM_017012195.1:c.957T= XP_016867684.1:p.Asn319=
XM_017012196.1:c.930T= XP_016867685.1:p.Asn310=
NM_000238.4:c.1107T= MANE Select NP_000229.1:p.Asn369=