Canonical Allele Identifier: CA1752416625
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957317G= , CM000669.2:g.150957317G= GRCh38
NC_000007.13:g.150654405G= , CM000669.1:g.150654405G= GRCh37
NC_000007.12:g.150285338G= NCBI36
NG_008916.1:g.25610C= , LRG_288:g.25610C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1935C=
ENST00000262186.10:c.1102C= MANE Select ENSP00000262186.5:p.His368=
ENST00000262186.9:c.1102C= ENSP00000262186.5:p.His368=
ENST00000430723.4:c.754C= ENSP00000387657.4:p.His252=
ENST00000532957.5:n.1325C=
NM_000238.3:c.1102C= , LRG_288t1:c.1102C= NP_000229.1:p.His368=
NM_172056.2:c.1102C= , LRG_288t2:c.1102C= NP_742053.1:p.His368=
XM_011516185.1:c.802C= XP_011514487.1:p.His268=
XM_011516186.1:c.1102C= XP_011514488.1:p.His368=
XM_011516185.2:c.802C= XP_011514487.1:p.His268=
XM_011516186.3:c.1102C= XP_011514488.1:p.His368=
XM_017012195.1:c.952C= XP_016867684.1:p.His318=
XM_017012196.1:c.925C= XP_016867685.1:p.His309=
NM_000238.4:c.1102C= MANE Select NP_000229.1:p.His368=