Canonical Allele Identifier: CA008086
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67478
ClinVar RCV Id: RCV000058207
dbSNP Id: rs199473497

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959726G>T , CM000669.2:g.150959726G>T GRCh38
NC_000007.13:g.150656814G>T , CM000669.1:g.150656814G>T GRCh37
NC_000007.12:g.150287747G>T NCBI36
NG_008916.1:g.23201C>A , LRG_288:g.23201C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1151C>A
ENST00000262186.10:c.318C>A MANE Select ENSP00000262186.5:p.Phe106Leu
ENST00000262186.9:c.318C>A ENSP00000262186.5:p.Phe106Leu
ENST00000430723.4:c.141C>A ENSP00000387657.4:p.Phe47Leu
ENST00000532957.5:n.541C>A
NM_000238.3:c.318C>A , LRG_288t1:c.318C>A NP_000229.1:p.Phe106Leu
NM_172056.2:c.318C>A , LRG_288t2:c.318C>A NP_742053.1:p.Phe106Leu
XM_011516185.1:c.18C>A XP_011514487.1:p.Phe6Leu
XM_011516186.1:c.318C>A XP_011514488.1:p.Phe106Leu
XM_011516185.2:c.18C>A XP_011514487.1:p.Phe6Leu
XM_011516186.3:c.318C>A XP_011514488.1:p.Phe106Leu
XM_017012195.1:c.168C>A XP_016867684.1:p.Phe56Leu
XM_017012196.1:c.141C>A XP_016867685.1:p.Phe47Leu
NM_000238.4:c.318C>A MANE Select NP_000229.1:p.Phe106Leu