Canonical Allele Identifier: CA1752418190
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958247C= , CM000669.2:g.150958247C= GRCh38
NC_000007.13:g.150655335C= , CM000669.1:g.150655335C= GRCh37
NC_000007.12:g.150286268C= NCBI36
NG_008916.1:g.24680G= , LRG_288:g.24680G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1561G=
ENST00000262186.10:c.728G= MANE Select ENSP00000262186.5:p.Ser243=
ENST00000262186.9:c.728G= ENSP00000262186.5:p.Ser243=
ENST00000430723.4:c.380G= ENSP00000387657.4:p.Ser127=
ENST00000532957.5:n.951G=
NM_000238.3:c.728G= , LRG_288t1:c.728G= NP_000229.1:p.Ser243=
NM_172056.2:c.728G= , LRG_288t2:c.728G= NP_742053.1:p.Ser243=
XM_011516185.1:c.428G= XP_011514487.1:p.Ser143=
XM_011516186.1:c.728G= XP_011514488.1:p.Ser243=
XM_011516185.2:c.428G= XP_011514487.1:p.Ser143=
XM_011516186.3:c.728G= XP_011514488.1:p.Ser243=
XM_017012195.1:c.578G= XP_016867684.1:p.Ser193=
XM_017012196.1:c.551G= XP_016867685.1:p.Ser184=
NM_000238.4:c.728G= MANE Select NP_000229.1:p.Ser243=