Canonical Allele Identifier: CA369866578
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1554431408
gnomAD v2: 7-150674879-G-GC
gnomAD v4: 7-150977791-G-GC
MyVariant Identifiers: chr7:g.150674879_150674880insC (hg19) chr7:g.150977791_150977792insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977794dup , CM000669.2:g.150977794dup GRCh38
NC_000007.13:g.150674882dup , CM000669.1:g.150674882dup GRCh37
NC_000007.12:g.150305815dup NCBI36
NG_008916.1:g.5135dup , LRG_288:g.5135dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.76+46dup MANE Select ENSP00000262186.5:n.76+46dup
ENST00000262186.9:c.76+46dup ENSP00000262186.5:n.76+46dup
ENST00000430723.4:c.-102+46dup ENSP00000387657.4:n.-102+46dup
ENST00000532957.5:n.299+46dup
NM_000238.3:c.76+46dup , LRG_288t1:c.76+46dup NP_000229.1:n.76+46dup
NM_172056.2:c.76+46dup , LRG_288t2:c.76+46dup NP_742053.1:n.76+46dup
XM_011516186.1:c.76+46dup XP_011514488.1:n.76+46dup
XM_011516186.3:c.76+46dup XP_011514488.1:n.76+46dup
NM_000238.4:c.76+46dup MANE Select NP_000229.1:n.76+46dup
Search 100 bp 5'
Search 100 bp 3'