Canonical Allele Identifier: CA1752428420
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947343T= , CM000669.2:g.150947343T= GRCh38
NC_000007.13:g.150644431T= , CM000669.1:g.150644431T= GRCh37
NC_000007.12:g.150275364T= NCBI36
NG_008916.1:g.35584A= , LRG_288:g.35584A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3970A=
ENST00000262186.10:c.3137A= MANE Select ENSP00000262186.5:p.Gln1046=
ENST00000330883.9:c.2117A= ENSP00000328531.4:p.Gln706=
ENST00000262186.9:c.3137A= ENSP00000262186.5:p.Gln1046=
ENST00000330883.8:c.2117A= ENSP00000328531.4:p.Gln706=
NM_000238.3:c.3137A= , LRG_288t1:c.3137A= NP_000229.1:p.Gln1046=
NM_172057.2:c.2117A= , LRG_288t3:c.2117A= NP_742054.1:p.Gln706=
XM_011516185.1:c.2837A= XP_011514487.1:p.Gln946=
XM_011516185.2:c.2837A= XP_011514487.1:p.Gln946=
XM_017012195.1:c.2987A= XP_016867684.1:p.Gln996=
XM_017012196.1:c.2960A= XP_016867685.1:p.Gln987=
NM_000238.4:c.3137A= MANE Select NP_000229.1:p.Gln1046=
NM_172057.3:c.2117A= NP_742054.1:p.Gln706=