Canonical Allele Identifier: CA1752418140
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958225C= , CM000669.2:g.150958225C= GRCh38
NC_000007.13:g.150655313C= , CM000669.1:g.150655313C= GRCh37
NC_000007.12:g.150286246C= NCBI36
NG_008916.1:g.24702G= , LRG_288:g.24702G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1583G=
ENST00000262186.10:c.750G= MANE Select ENSP00000262186.5:p.Ser250=
ENST00000262186.9:c.750G= ENSP00000262186.5:p.Ser250=
ENST00000430723.4:c.402G= ENSP00000387657.4:p.Ser134=
ENST00000532957.5:n.973G=
NM_000238.3:c.750G= , LRG_288t1:c.750G= NP_000229.1:p.Ser250=
NM_172056.2:c.750G= , LRG_288t2:c.750G= NP_742053.1:p.Ser250=
XM_011516185.1:c.450G= XP_011514487.1:p.Ser150=
XM_011516186.1:c.750G= XP_011514488.1:p.Ser250=
XM_011516185.2:c.450G= XP_011514487.1:p.Ser150=
XM_011516186.3:c.750G= XP_011514488.1:p.Ser250=
XM_017012195.1:c.600G= XP_016867684.1:p.Ser200=
XM_017012196.1:c.573G= XP_016867685.1:p.Ser191=
NM_000238.4:c.750G= MANE Select NP_000229.1:p.Ser250=