Canonical Allele Identifier: CA369853912
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948530G>T , CM000669.2:g.150948530G>T GRCh38
NC_000007.13:g.150645618G>T , CM000669.1:g.150645618G>T GRCh37
NC_000007.12:g.150276551G>T NCBI36
NG_008916.1:g.34397C>A , LRG_288:g.34397C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3439C>A
ENST00000262186.10:c.2606C>A MANE Select ENSP00000262186.5:p.Pro869Gln
ENST00000330883.9:c.1586C>A ENSP00000328531.4:p.Pro529Gln
ENST00000262186.9:c.2606C>A ENSP00000262186.5:p.Pro869Gln
ENST00000330883.8:c.1586C>A ENSP00000328531.4:p.Pro529Gln
NM_000238.3:c.2606C>A , LRG_288t1:c.2606C>A NP_000229.1:p.Pro869Gln
NM_172057.2:c.1586C>A , LRG_288t3:c.1586C>A NP_742054.1:p.Pro529Gln
XM_011516185.1:c.2306C>A XP_011514487.1:p.Pro769Gln
XM_011516186.1:c.2606C>A XP_011514488.1:p.Pro869Gln
XM_011516185.2:c.2306C>A XP_011514487.1:p.Pro769Gln
XM_011516186.3:c.2606C>A XP_011514488.1:p.Pro869Gln
XM_017012195.1:c.2456C>A XP_016867684.1:p.Pro819Gln
XM_017012196.1:c.2429C>A XP_016867685.1:p.Pro810Gln
NM_000238.4:c.2606C>A MANE Select NP_000229.1:p.Pro869Gln
NM_172057.3:c.1586C>A NP_742054.1:p.Pro529Gln