Canonical Allele Identifier: CA369854753
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948879C>G , CM000669.2:g.150948879C>G GRCh38
NC_000007.13:g.150645967C>G , CM000669.1:g.150645967C>G GRCh37
NC_000007.12:g.150276900C>G NCBI36
NG_008916.1:g.34048G>C , LRG_288:g.34048G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3402G>C
ENST00000262186.10:c.2569G>C MANE Select ENSP00000262186.5:p.Glu857Gln
ENST00000330883.9:c.1549G>C ENSP00000328531.4:p.Glu517Gln
ENST00000262186.9:c.2569G>C ENSP00000262186.5:p.Glu857Gln
ENST00000330883.8:c.1549G>C ENSP00000328531.4:p.Glu517Gln
NM_000238.3:c.2569G>C , LRG_288t1:c.2569G>C NP_000229.1:p.Glu857Gln
NM_172057.2:c.1549G>C , LRG_288t3:c.1549G>C NP_742054.1:p.Glu517Gln
XM_011516185.1:c.2269G>C XP_011514487.1:p.Glu757Gln
XM_011516186.1:c.2569G>C XP_011514488.1:p.Glu857Gln
XM_011516185.2:c.2269G>C XP_011514487.1:p.Glu757Gln
XM_011516186.3:c.2569G>C XP_011514488.1:p.Glu857Gln
XM_017012195.1:c.2419G>C XP_016867684.1:p.Glu807Gln
XM_017012196.1:c.2392G>C XP_016867685.1:p.Glu798Gln
NM_000238.4:c.2569G>C MANE Select NP_000229.1:p.Glu857Gln
NM_172057.3:c.1549G>C NP_742054.1:p.Glu517Gln