Canonical Allele Identifier: CA007737
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14442
dbSNP Id: rs121912515

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974720G>C , CM000669.2:g.150974720G>C GRCh38
NC_000007.13:g.150671808G>C , CM000669.1:g.150671808G>C GRCh37
NC_000007.12:g.150302741G>C NCBI36
NG_008916.1:g.8207C>G , LRG_288:g.8207C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.298C>G MANE Select ENSP00000262186.5:p.Arg100Gly
ENST00000262186.9:c.298C>G ENSP00000262186.5:p.Arg100Gly
ENST00000430723.4:c.121C>G ENSP00000387657.4:p.Arg41Gly
ENST00000532957.5:n.521C>G
NM_000238.3:c.298C>G , LRG_288t1:c.298C>G NP_000229.1:p.Arg100Gly
NM_172056.2:c.298C>G , LRG_288t2:c.298C>G NP_742053.1:p.Arg100Gly
XM_011516186.1:c.298C>G XP_011514488.1:p.Arg100Gly
XM_011516186.3:c.298C>G XP_011514488.1:p.Arg100Gly
XM_017012196.1:c.121C>G XP_016867685.1:p.Arg41Gly
NM_000238.4:c.298C>G MANE Select NP_000229.1:p.Arg100Gly