Canonical Allele Identifier: CA1752442142
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1801950495
gnomAD v3: 7-150975168-C-T
gnomAD v4: 7-150975168-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975168C>T , CM000669.2:g.150975168C>T GRCh38
NC_000007.13:g.150672256C>T , CM000669.1:g.150672256C>T GRCh37
NC_000007.12:g.150303189C>T NCBI36
NG_008916.1:g.7759G>A , LRG_288:g.7759G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-227G>A MANE Select ENSP00000262186.5:n.77-227G>A
ENST00000262186.9:c.77-227G>A ENSP00000262186.5:n.77-227G>A
ENST00000430723.4:c.-101-227G>A ENSP00000387657.4:n.-101-227G>A
ENST00000532957.5:n.300-227G>A
NM_000238.3:c.77-227G>A , LRG_288t1:c.77-227G>A NP_000229.1:n.77-227G>A
NM_172056.2:c.77-227G>A , LRG_288t2:c.77-227G>A NP_742053.1:n.77-227G>A
XM_011516186.1:c.77-227G>A XP_011514488.1:n.77-227G>A
XM_011516186.3:c.77-227G>A XP_011514488.1:n.77-227G>A
NM_000238.4:c.77-227G>A MANE Select NP_000229.1:n.77-227G>A
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