Canonical Allele Identifier: CA1752425862
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150945506C= , CM000669.2:g.150945506C= GRCh38
NC_000007.13:g.150642594C= , CM000669.1:g.150642594C= GRCh37
NC_000007.12:g.150273527C= NCBI36
NG_008916.1:g.37421G= , LRG_288:g.37421G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4172G=
ENST00000262186.10:c.3339G= MANE Select ENSP00000262186.5:p.Gln1113=
ENST00000330883.9:c.2319G= ENSP00000328531.4:p.Gln773=
ENST00000262186.9:c.3339G= ENSP00000262186.5:p.Gln1113=
ENST00000330883.8:c.2319G= ENSP00000328531.4:p.Gln773=
NM_000238.3:c.3339G= , LRG_288t1:c.3339G= NP_000229.1:p.Gln1113=
NM_172057.2:c.2319G= , LRG_288t3:c.2319G= NP_742054.1:p.Gln773=
XM_011516185.1:c.3039G= XP_011514487.1:p.Gln1013=
XM_011516185.2:c.3039G= XP_011514487.1:p.Gln1013=
XM_017012195.1:c.3189G= XP_016867684.1:p.Gln1063=
XM_017012196.1:c.3162G= XP_016867685.1:p.Gln1054=
NM_000238.4:c.3339G= MANE Select NP_000229.1:p.Gln1113=
NM_172057.3:c.2319G= NP_742054.1:p.Gln773=