Canonical Allele Identifier: CA1752428580
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947372G= , CM000669.2:g.150947372G= GRCh38
NC_000007.13:g.150644460G= , CM000669.1:g.150644460G= GRCh37
NC_000007.12:g.150275393G= NCBI36
NG_008916.1:g.35555C= , LRG_288:g.35555C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3941C=
ENST00000262186.10:c.3108C= MANE Select ENSP00000262186.5:p.Gly1036=
ENST00000330883.9:c.2088C= ENSP00000328531.4:p.Gly696=
ENST00000262186.9:c.3108C= ENSP00000262186.5:p.Gly1036=
ENST00000330883.8:c.2088C= ENSP00000328531.4:p.Gly696=
NM_000238.3:c.3108C= , LRG_288t1:c.3108C= NP_000229.1:p.Gly1036=
NM_172057.2:c.2088C= , LRG_288t3:c.2088C= NP_742054.1:p.Gly696=
XM_011516185.1:c.2808C= XP_011514487.1:p.Gly936=
XM_011516185.2:c.2808C= XP_011514487.1:p.Gly936=
XM_017012195.1:c.2958C= XP_016867684.1:p.Gly986=
XM_017012196.1:c.2931C= XP_016867685.1:p.Gly977=
NM_000238.4:c.3108C= MANE Select NP_000229.1:p.Gly1036=
NM_172057.3:c.2088C= NP_742054.1:p.Gly696=