Canonical Allele Identifier: CA2685603924
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150974683-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974683T>G , CM000669.2:g.150974683T>G GRCh38
NC_000007.13:g.150671771T>G , CM000669.1:g.150671771T>G GRCh37
NC_000007.12:g.150302704T>G NCBI36
NG_008916.1:g.8244A>C , LRG_288:g.8244A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+28A>C MANE Select ENSP00000262186.5:n.307+28A>C
ENST00000262186.9:c.307+28A>C ENSP00000262186.5:n.307+28A>C
ENST00000430723.4:c.130+28A>C ENSP00000387657.4:n.130+28A>C
ENST00000532957.5:n.530+28A>C
NM_000238.3:c.307+28A>C , LRG_288t1:c.307+28A>C NP_000229.1:n.307+28A>C
NM_172056.2:c.307+28A>C , LRG_288t2:c.307+28A>C NP_742053.1:n.307+28A>C
XM_011516186.1:c.307+28A>C XP_011514488.1:n.307+28A>C
XM_011516186.3:c.307+28A>C XP_011514488.1:n.307+28A>C
XM_017012196.1:c.130+28A>C XP_016867685.1:n.130+28A>C
NM_000238.4:c.307+28A>C MANE Select NP_000229.1:n.307+28A>C
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