Canonical Allele Identifier: CA1752429215
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947417G= , CM000669.2:g.150947417G= GRCh38
NC_000007.13:g.150644505G= , CM000669.1:g.150644505G= GRCh37
NC_000007.12:g.150275438G= NCBI36
NG_008916.1:g.35510C= , LRG_288:g.35510C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3896C=
ENST00000262186.10:c.3063C= MANE Select ENSP00000262186.5:p.Ser1021=
ENST00000330883.9:c.2043C= ENSP00000328531.4:p.Ser681=
ENST00000262186.9:c.3063C= ENSP00000262186.5:p.Ser1021=
ENST00000330883.8:c.2043C= ENSP00000328531.4:p.Ser681=
NM_000238.3:c.3063C= , LRG_288t1:c.3063C= NP_000229.1:p.Ser1021=
NM_172057.2:c.2043C= , LRG_288t3:c.2043C= NP_742054.1:p.Ser681=
XM_011516185.1:c.2763C= XP_011514487.1:p.Ser921=
XM_011516185.2:c.2763C= XP_011514487.1:p.Ser921=
XM_017012195.1:c.2913C= XP_016867684.1:p.Ser971=
XM_017012196.1:c.2886C= XP_016867685.1:p.Ser962=
NM_000238.4:c.3063C= MANE Select NP_000229.1:p.Ser1021=
NM_172057.3:c.2043C= NP_742054.1:p.Ser681=