Canonical Allele Identifier: CA1752416855
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957442C= , CM000669.2:g.150957442C= GRCh38
NC_000007.13:g.150654530C= , CM000669.1:g.150654530C= GRCh37
NC_000007.12:g.150285463C= NCBI36
NG_008916.1:g.25485G= , LRG_288:g.25485G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1810G=
ENST00000262186.10:c.977G= MANE Select ENSP00000262186.5:p.Arg326=
ENST00000262186.9:c.977G= ENSP00000262186.5:p.Arg326=
ENST00000430723.4:c.629G= ENSP00000387657.4:p.Arg210=
ENST00000532957.5:n.1200G=
NM_000238.3:c.977G= , LRG_288t1:c.977G= NP_000229.1:p.Arg326=
NM_172056.2:c.977G= , LRG_288t2:c.977G= NP_742053.1:p.Arg326=
XM_011516185.1:c.677G= XP_011514487.1:p.Arg226=
XM_011516186.1:c.977G= XP_011514488.1:p.Arg326=
XM_011516185.2:c.677G= XP_011514487.1:p.Arg226=
XM_011516186.3:c.977G= XP_011514488.1:p.Arg326=
XM_017012195.1:c.827G= XP_016867684.1:p.Arg276=
XM_017012196.1:c.800G= XP_016867685.1:p.Arg267=
NM_000238.4:c.977G= MANE Select NP_000229.1:p.Arg326=