Canonical Allele Identifier: CA835213586
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1246231242
gnomAD v4: 7-150974679-CT-C
MyVariant Identifiers: chr7:g.150671768del (hg19) chr7:g.150974680del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974680del , CM000669.2:g.150974680del GRCh38
NC_000007.13:g.150671768del , CM000669.1:g.150671768del GRCh37
NC_000007.12:g.150302701del NCBI36
NG_008916.1:g.8247del , LRG_288:g.8247del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+31del MANE Select ENSP00000262186.5:n.307+31del
ENST00000262186.9:c.307+31del ENSP00000262186.5:n.307+31del
ENST00000430723.4:c.130+31del ENSP00000387657.4:n.130+31del
ENST00000532957.5:n.530+31del
NM_000238.3:c.307+31del , LRG_288t1:c.307+31del NP_000229.1:n.307+31del
NM_172056.2:c.307+31del , LRG_288t2:c.307+31del NP_742053.1:n.307+31del
XM_011516186.1:c.307+31del XP_011514488.1:n.307+31del
XM_011516186.3:c.307+31del XP_011514488.1:n.307+31del
XM_017012196.1:c.130+31del XP_016867685.1:n.130+31del
NM_000238.4:c.307+31del MANE Select NP_000229.1:n.307+31del
Search 100 bp 5'
Search 100 bp 3'