Canonical Allele Identifier: CA1752419845
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959595G= , CM000669.2:g.150959595G= GRCh38
NC_000007.13:g.150656683G= , CM000669.1:g.150656683G= GRCh37
NC_000007.12:g.150287616G= NCBI36
NG_008916.1:g.23332C= , LRG_288:g.23332C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1282C=
ENST00000262186.10:c.449C= MANE Select ENSP00000262186.5:p.Pro150=
ENST00000262186.9:c.449C= ENSP00000262186.5:p.Pro150=
ENST00000430723.4:c.234+38C= ENSP00000387657.4:n.234+38C=
ENST00000532957.5:n.672C=
NM_000238.3:c.449C= , LRG_288t1:c.449C= NP_000229.1:p.Pro150=
NM_172056.2:c.449C= , LRG_288t2:c.449C= NP_742053.1:p.Pro150=
XM_011516185.1:c.149C= XP_011514487.1:p.Pro50=
XM_011516186.1:c.449C= XP_011514488.1:p.Pro150=
XM_011516185.2:c.149C= XP_011514487.1:p.Pro50=
XM_011516186.3:c.449C= XP_011514488.1:p.Pro150=
XM_017012195.1:c.299C= XP_016867684.1:p.Pro100=
XM_017012196.1:c.272C= XP_016867685.1:p.Pro91=
NM_000238.4:c.449C= MANE Select NP_000229.1:p.Pro150=