Canonical Allele Identifier: CA169088254
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs982582409

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150970068T>C , CM000669.2:g.150970068T>C GRCh38
NC_000007.13:g.150667156T>C , CM000669.1:g.150667156T>C GRCh37
NC_000007.12:g.150298089T>C NCBI36
NG_008916.1:g.12859A>G , LRG_288:g.12859A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+4643A>G MANE Select ENSP00000262186.5:n.307+4643A>G
ENST00000262186.9:c.307+4643A>G ENSP00000262186.5:n.307+4643A>G
ENST00000430723.4:c.130+4643A>G ENSP00000387657.4:n.130+4643A>G
ENST00000532957.5:n.530+4643A>G
NM_000238.3:c.307+4643A>G , LRG_288t1:c.307+4643A>G NP_000229.1:n.307+4643A>G
NM_172056.2:c.307+4643A>G , LRG_288t2:c.307+4643A>G NP_742053.1:n.307+4643A>G
XM_011516185.1:c.7+4302A>G XP_011514487.1:n.7+4302A>G
XM_011516186.1:c.307+4643A>G XP_011514488.1:n.307+4643A>G
XM_011516185.2:c.7+4302A>G XP_011514487.1:n.7+4302A>G
XM_011516186.3:c.307+4643A>G XP_011514488.1:n.307+4643A>G
XM_017012196.1:c.130+4643A>G XP_016867685.1:n.130+4643A>G
NM_000238.4:c.307+4643A>G MANE Select NP_000229.1:n.307+4643A>G