Canonical Allele Identifier: CA1752416880
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957450G= , CM000669.2:g.150957450G= GRCh38
NC_000007.13:g.150654538G= , CM000669.1:g.150654538G= GRCh37
NC_000007.12:g.150285471G= NCBI36
NG_008916.1:g.25477C= , LRG_288:g.25477C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1802C=
ENST00000262186.10:c.969C= MANE Select ENSP00000262186.5:p.Asp323=
ENST00000262186.9:c.969C= ENSP00000262186.5:p.Asp323=
ENST00000430723.4:c.621C= ENSP00000387657.4:p.Asp207=
ENST00000532957.5:n.1192C=
NM_000238.3:c.969C= , LRG_288t1:c.969C= NP_000229.1:p.Asp323=
NM_172056.2:c.969C= , LRG_288t2:c.969C= NP_742053.1:p.Asp323=
XM_011516185.1:c.669C= XP_011514487.1:p.Asp223=
XM_011516186.1:c.969C= XP_011514488.1:p.Asp323=
XM_011516185.2:c.669C= XP_011514487.1:p.Asp223=
XM_011516186.3:c.969C= XP_011514488.1:p.Asp323=
XM_017012195.1:c.819C= XP_016867684.1:p.Asp273=
XM_017012196.1:c.792C= XP_016867685.1:p.Asp264=
NM_000238.4:c.969C= MANE Select NP_000229.1:p.Asp323=