Canonical Allele Identifier: CA369853642
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948457C>A , CM000669.2:g.150948457C>A GRCh38
NC_000007.13:g.150645545C>A , CM000669.1:g.150645545C>A GRCh37
NC_000007.12:g.150276478C>A NCBI36
NG_008916.1:g.34470G>T , LRG_288:g.34470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3512G>T
ENST00000262186.10:c.2679G>T MANE Select ENSP00000262186.5:p.Arg893Ser
ENST00000330883.9:c.1659G>T ENSP00000328531.4:p.Arg553Ser
ENST00000262186.9:c.2679G>T ENSP00000262186.5:p.Arg893Ser
ENST00000330883.8:c.1659G>T ENSP00000328531.4:p.Arg553Ser
NM_000238.3:c.2679G>T , LRG_288t1:c.2679G>T NP_000229.1:p.Arg893Ser
NM_172057.2:c.1659G>T , LRG_288t3:c.1659G>T NP_742054.1:p.Arg553Ser
XM_011516185.1:c.2379G>T XP_011514487.1:p.Arg793Ser
XM_011516186.1:c.2679G>T XP_011514488.1:p.Arg893Ser
XM_011516185.2:c.2379G>T XP_011514487.1:p.Arg793Ser
XM_011516186.3:c.2679G>T XP_011514488.1:p.Arg893Ser
XM_017012195.1:c.2529G>T XP_016867684.1:p.Arg843Ser
XM_017012196.1:c.2502G>T XP_016867685.1:p.Arg834Ser
NM_000238.4:c.2679G>T MANE Select NP_000229.1:p.Arg893Ser
NM_172057.3:c.1659G>T NP_742054.1:p.Arg553Ser