Canonical Allele Identifier: CA1752419909
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959621C= , CM000669.2:g.150959621C= GRCh38
NC_000007.13:g.150656709C= , CM000669.1:g.150656709C= GRCh37
NC_000007.12:g.150287642C= NCBI36
NG_008916.1:g.23306G= , LRG_288:g.23306G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1256G=
ENST00000262186.10:c.423G= MANE Select ENSP00000262186.5:p.Pro141=
ENST00000262186.9:c.423G= ENSP00000262186.5:p.Pro141=
ENST00000430723.4:c.234+12G= ENSP00000387657.4:n.234+12G=
ENST00000532957.5:n.646G=
NM_000238.3:c.423G= , LRG_288t1:c.423G= NP_000229.1:p.Pro141=
NM_172056.2:c.423G= , LRG_288t2:c.423G= NP_742053.1:p.Pro141=
XM_011516185.1:c.123G= XP_011514487.1:p.Pro41=
XM_011516186.1:c.423G= XP_011514488.1:p.Pro141=
XM_011516185.2:c.123G= XP_011514487.1:p.Pro41=
XM_011516186.3:c.423G= XP_011514488.1:p.Pro141=
XM_017012195.1:c.273G= XP_016867684.1:p.Pro91=
XM_017012196.1:c.246G= XP_016867685.1:p.Pro82=
NM_000238.4:c.423G= MANE Select NP_000229.1:p.Pro141=