Canonical Allele Identifier: CA1752418388
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958308C= , CM000669.2:g.150958308C= GRCh38
NC_000007.13:g.150655396C= , CM000669.1:g.150655396C= GRCh37
NC_000007.12:g.150286329C= NCBI36
NG_008916.1:g.24619G= , LRG_288:g.24619G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1500G=
ENST00000262186.10:c.667G= MANE Select ENSP00000262186.5:p.Ala223=
ENST00000262186.9:c.667G= ENSP00000262186.5:p.Ala223=
ENST00000430723.4:c.319G= ENSP00000387657.4:p.Ala107=
ENST00000532957.5:n.890G=
NM_000238.3:c.667G= , LRG_288t1:c.667G= NP_000229.1:p.Ala223=
NM_172056.2:c.667G= , LRG_288t2:c.667G= NP_742053.1:p.Ala223=
XM_011516185.1:c.367G= XP_011514487.1:p.Ala123=
XM_011516186.1:c.667G= XP_011514488.1:p.Ala223=
XM_011516185.2:c.367G= XP_011514487.1:p.Ala123=
XM_011516186.3:c.667G= XP_011514488.1:p.Ala223=
XM_017012195.1:c.517G= XP_016867684.1:p.Ala173=
XM_017012196.1:c.490G= XP_016867685.1:p.Ala164=
NM_000238.4:c.667G= MANE Select NP_000229.1:p.Ala223=