Canonical Allele Identifier: CA579075495
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 518539
dbSNP Id: rs1181633993

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958507G>A , CM000669.2:g.150958507G>A GRCh38
NC_000007.13:g.150655595G>A , CM000669.1:g.150655595G>A GRCh37
NC_000007.12:g.150286528G>A NCBI36
NG_008916.1:g.24420C>T , LRG_288:g.24420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-5C>T
ENST00000262186.10:c.473-5C>T MANE Select ENSP00000262186.5:n.473-5C>T
ENST00000262186.9:c.473-5C>T ENSP00000262186.5:n.473-5C>T
ENST00000430723.4:c.235-115C>T ENSP00000387657.4:n.235-115C>T
ENST00000532957.5:n.696-5C>T
NM_000238.3:c.473-5C>T , LRG_288t1:c.473-5C>T NP_000229.1:n.473-5C>T
NM_172056.2:c.473-5C>T , LRG_288t2:c.473-5C>T NP_742053.1:n.473-5C>T
XM_011516185.1:c.173-5C>T XP_011514487.1:n.173-5C>T
XM_011516186.1:c.473-5C>T XP_011514488.1:n.473-5C>T
XM_011516185.2:c.173-5C>T XP_011514487.1:n.173-5C>T
XM_011516186.3:c.473-5C>T XP_011514488.1:n.473-5C>T
XM_017012195.1:c.323-5C>T XP_016867684.1:n.323-5C>T
XM_017012196.1:c.296-5C>T XP_016867685.1:n.296-5C>T
NM_000238.4:c.473-5C>T MANE Select NP_000229.1:n.473-5C>T