Canonical Allele Identifier: CA1752429226
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947419T= , CM000669.2:g.150947419T= GRCh38
NC_000007.13:g.150644507T= , CM000669.1:g.150644507T= GRCh37
NC_000007.12:g.150275440T= NCBI36
NG_008916.1:g.35508A= , LRG_288:g.35508A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3894A=
ENST00000262186.10:c.3061A= MANE Select ENSP00000262186.5:p.Ser1021=
ENST00000330883.9:c.2041A= ENSP00000328531.4:p.Ser681=
ENST00000262186.9:c.3061A= ENSP00000262186.5:p.Ser1021=
ENST00000330883.8:c.2041A= ENSP00000328531.4:p.Ser681=
NM_000238.3:c.3061A= , LRG_288t1:c.3061A= NP_000229.1:p.Ser1021=
NM_172057.2:c.2041A= , LRG_288t3:c.2041A= NP_742054.1:p.Ser681=
XM_011516185.1:c.2761A= XP_011514487.1:p.Ser921=
XM_011516185.2:c.2761A= XP_011514487.1:p.Ser921=
XM_017012195.1:c.2911A= XP_016867684.1:p.Ser971=
XM_017012196.1:c.2884A= XP_016867685.1:p.Ser962=
NM_000238.4:c.3061A= MANE Select NP_000229.1:p.Ser1021=
NM_172057.3:c.2041A= NP_742054.1:p.Ser681=