Canonical Allele Identifier: CA1752429759
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947618T= , CM000669.2:g.150947618T= GRCh38
NC_000007.13:g.150644706T= , CM000669.1:g.150644706T= GRCh37
NC_000007.12:g.150275639T= NCBI36
NG_008916.1:g.35309A= , LRG_288:g.35309A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3786A=
ENST00000262186.10:c.2953A= MANE Select ENSP00000262186.5:p.Asn985=
ENST00000330883.9:c.1933A= ENSP00000328531.4:p.Asn645=
ENST00000262186.9:c.2953A= ENSP00000262186.5:p.Asn985=
ENST00000330883.8:c.1933A= ENSP00000328531.4:p.Asn645=
NM_000238.3:c.2953A= , LRG_288t1:c.2953A= NP_000229.1:p.Asn985=
NM_172057.2:c.1933A= , LRG_288t3:c.1933A= NP_742054.1:p.Asn645=
XM_011516185.1:c.2653A= XP_011514487.1:p.Asn885=
XM_011516186.1:c.*33A= XP_011514488.1:n.*33A=
XM_011516185.2:c.2653A= XP_011514487.1:p.Asn885=
XM_011516186.3:c.*33A= XP_011514488.1:n.*33A=
XM_017012195.1:c.2803A= XP_016867684.1:p.Asn935=
XM_017012196.1:c.2776A= XP_016867685.1:p.Asn926=
NM_000238.4:c.2953A= MANE Select NP_000229.1:p.Asn985=
NM_172057.3:c.1933A= NP_742054.1:p.Asn645=