Canonical Allele Identifier: CA369862780
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958274A>C , CM000669.2:g.150958274A>C GRCh38
NC_000007.13:g.150655362A>C , CM000669.1:g.150655362A>C GRCh37
NC_000007.12:g.150286295A>C NCBI36
NG_008916.1:g.24653T>G , LRG_288:g.24653T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1534T>G
ENST00000262186.10:c.701T>G MANE Select ENSP00000262186.5:p.Leu234Arg
ENST00000262186.9:c.701T>G ENSP00000262186.5:p.Leu234Arg
ENST00000430723.4:c.353T>G ENSP00000387657.4:p.Leu118Arg
ENST00000532957.5:n.924T>G
NM_000238.3:c.701T>G , LRG_288t1:c.701T>G NP_000229.1:p.Leu234Arg
NM_172056.2:c.701T>G , LRG_288t2:c.701T>G NP_742053.1:p.Leu234Arg
XM_011516185.1:c.401T>G XP_011514487.1:p.Leu134Arg
XM_011516186.1:c.701T>G XP_011514488.1:p.Leu234Arg
XM_011516185.2:c.401T>G XP_011514487.1:p.Leu134Arg
XM_011516186.3:c.701T>G XP_011514488.1:p.Leu234Arg
XM_017012195.1:c.551T>G XP_016867684.1:p.Leu184Arg
XM_017012196.1:c.524T>G XP_016867685.1:p.Leu175Arg
NM_000238.4:c.701T>G MANE Select NP_000229.1:p.Leu234Arg