Canonical Allele Identifier: CA169090650
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs577998381
gnomAD v2: 7-150672215-CGGCCG-C
gnomAD v3: 7-150975127-CGGCCG-C
gnomAD v4: 7-150975127-CGGCCG-C
MyVariant Identifiers: chr7:g.150672216_150672220del (hg19) chr7:g.150975128_150975132del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975133_150975137del , CM000669.2:g.150975133_150975137del GRCh38
NC_000007.13:g.150672221_150672225del , CM000669.1:g.150672221_150672225del GRCh37
NC_000007.12:g.150303154_150303158del NCBI36
NG_008916.1:g.7795_7799del , LRG_288:g.7795_7799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-191_77-187del MANE Select ENSP00000262186.5:n.77-191_77-187del
ENST00000262186.9:c.77-191_77-187del ENSP00000262186.5:n.77-191_77-187del
ENST00000430723.4:c.-101-191_-101-187del ENSP00000387657.4:n.-101-191_-101-187del
ENST00000532957.5:n.300-191_300-187del
NM_000238.3:c.77-191_77-187del , LRG_288t1:c.77-191_77-187del NP_000229.1:n.77-191_77-187del
NM_172056.2:c.77-191_77-187del , LRG_288t2:c.77-191_77-187del NP_742053.1:n.77-191_77-187del
XM_011516186.1:c.77-191_77-187del XP_011514488.1:n.77-191_77-187del
XM_011516186.3:c.77-191_77-187del XP_011514488.1:n.77-191_77-187del
NM_000238.4:c.77-191_77-187del MANE Select NP_000229.1:n.77-191_77-187del
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