Canonical Allele Identifier: CA1752428897
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947410T= , CM000669.2:g.150947410T= GRCh38
NC_000007.13:g.150644498T= , CM000669.1:g.150644498T= GRCh37
NC_000007.12:g.150275431T= NCBI36
NG_008916.1:g.35517A= , LRG_288:g.35517A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3903A=
ENST00000262186.10:c.3070A= MANE Select ENSP00000262186.5:p.Asn1024=
ENST00000330883.9:c.2050A= ENSP00000328531.4:p.Asn684=
ENST00000262186.9:c.3070A= ENSP00000262186.5:p.Asn1024=
ENST00000330883.8:c.2050A= ENSP00000328531.4:p.Asn684=
NM_000238.3:c.3070A= , LRG_288t1:c.3070A= NP_000229.1:p.Asn1024=
NM_172057.2:c.2050A= , LRG_288t3:c.2050A= NP_742054.1:p.Asn684=
XM_011516185.1:c.2770A= XP_011514487.1:p.Asn924=
XM_011516185.2:c.2770A= XP_011514487.1:p.Asn924=
XM_017012195.1:c.2920A= XP_016867684.1:p.Asn974=
XM_017012196.1:c.2893A= XP_016867685.1:p.Asn965=
NM_000238.4:c.3070A= MANE Select NP_000229.1:p.Asn1024=
NM_172057.3:c.2050A= NP_742054.1:p.Asn684=