Canonical Allele Identifier: CA008293
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs794728350
gnomAD v4: 7-150959703-G-C
MyVariant Identifiers: chr7:g.150656791G>C (hg19) chr7:g.150959703G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959703G>C , CM000669.2:g.150959703G>C GRCh38
NC_000007.13:g.150656791G>C , CM000669.1:g.150656791G>C GRCh37
NC_000007.12:g.150287724G>C NCBI36
NG_008916.1:g.23224C>G , LRG_288:g.23224C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1174C>G
ENST00000262186.10:c.341C>G MANE Select ENSP00000262186.5:p.Pro114Arg
ENST00000262186.9:c.341C>G ENSP00000262186.5:p.Pro114Arg
ENST00000430723.4:c.164C>G ENSP00000387657.4:p.Pro55Arg
ENST00000532957.5:n.564C>G
NM_000238.3:c.341C>G , LRG_288t1:c.341C>G NP_000229.1:p.Pro114Arg
NM_172056.2:c.341C>G , LRG_288t2:c.341C>G NP_742053.1:p.Pro114Arg
XM_011516185.1:c.41C>G XP_011514487.1:p.Pro14Arg
XM_011516186.1:c.341C>G XP_011514488.1:p.Pro114Arg
XM_011516185.2:c.41C>G XP_011514487.1:p.Pro14Arg
XM_011516186.3:c.341C>G XP_011514488.1:p.Pro114Arg
XM_017012195.1:c.191C>G XP_016867684.1:p.Pro64Arg
XM_017012196.1:c.164C>G XP_016867685.1:p.Pro55Arg
NM_000238.4:c.341C>G MANE Select NP_000229.1:p.Pro114Arg
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