Canonical Allele Identifier: CA1752416617
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957311C= , CM000669.2:g.150957311C= GRCh38
NC_000007.13:g.150654399C= , CM000669.1:g.150654399C= GRCh37
NC_000007.12:g.150285332C= NCBI36
NG_008916.1:g.25616G= , LRG_288:g.25616G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1941G=
ENST00000262186.10:c.1108G= MANE Select ENSP00000262186.5:p.Val370=
ENST00000262186.9:c.1108G= ENSP00000262186.5:p.Val370=
ENST00000430723.4:c.760G= ENSP00000387657.4:p.Val254=
ENST00000532957.5:n.1331G=
NM_000238.3:c.1108G= , LRG_288t1:c.1108G= NP_000229.1:p.Val370=
NM_172056.2:c.1108G= , LRG_288t2:c.1108G= NP_742053.1:p.Val370=
XM_011516185.1:c.808G= XP_011514487.1:p.Val270=
XM_011516186.1:c.1108G= XP_011514488.1:p.Val370=
XM_011516185.2:c.808G= XP_011514487.1:p.Val270=
XM_011516186.3:c.1108G= XP_011514488.1:p.Val370=
XM_017012195.1:c.958G= XP_016867684.1:p.Val320=
XM_017012196.1:c.931G= XP_016867685.1:p.Val311=
NM_000238.4:c.1108G= MANE Select NP_000229.1:p.Val370=