Canonical Allele Identifier: CA2605591415
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1802002640
gnomAD v3: 7-150977343-G-T
gnomAD v4: 7-150977343-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977343G>T , CM000669.2:g.150977343G>T GRCh38
NC_000007.13:g.150674431G>T , CM000669.1:g.150674431G>T GRCh37
NC_000007.12:g.150305364G>T NCBI36
NG_008916.1:g.5584C>A , LRG_288:g.5584C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+495C>A MANE Select ENSP00000262186.5:n.76+495C>A
ENST00000262186.9:c.76+495C>A ENSP00000262186.5:n.76+495C>A
ENST00000430723.4:c.-102+495C>A ENSP00000387657.4:n.-102+495C>A
ENST00000532957.5:n.299+495C>A
NM_000238.3:c.76+495C>A , LRG_288t1:c.76+495C>A NP_000229.1:n.76+495C>A
NM_172056.2:c.76+495C>A , LRG_288t2:c.76+495C>A NP_742053.1:n.76+495C>A
XM_011516186.1:c.76+495C>A XP_011514488.1:n.76+495C>A
XM_011516186.3:c.76+495C>A XP_011514488.1:n.76+495C>A
NM_000238.4:c.76+495C>A MANE Select NP_000229.1:n.76+495C>A
Search 100 bp 5'
Search 100 bp 3'