Canonical Allele Identifier: CA2685607667
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150977919-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977919G>T , CM000669.2:g.150977919G>T GRCh38
NC_000007.13:g.150675007G>T , CM000669.1:g.150675007G>T GRCh37
NC_000007.12:g.150305940G>T NCBI36
NG_008916.1:g.5008C>A , LRG_288:g.5008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.-6C>A MANE Select ENSP00000262186.5:n.-6C>A
ENST00000262186.9:c.-6C>A ENSP00000262186.5:n.-6C>A
ENST00000430723.4:c.-183C>A ENSP00000387657.4:n.-183C>A
ENST00000532957.5:n.218C>A
NM_000238.3:c.-6C>A , LRG_288t1:c.-6C>A NP_000229.1:n.-6C>A
NM_172056.2:c.-6C>A , LRG_288t2:c.-6C>A NP_742053.1:n.-6C>A
XM_011516186.1:c.-6C>A XP_011514488.1:n.-6C>A
XM_011516186.3:c.-6C>A XP_011514488.1:n.-6C>A
NM_000238.4:c.-6C>A MANE Select NP_000229.1:n.-6C>A
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