Canonical Allele Identifier: CA008718

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67521
• ClinVar RCV Id: RCV000058250
• dbSNP Id: rs199472872
• gnomAD v4: 7-150958251-G-C
• MyVariant Identifiers: chr7:g.150655339G>C (hg19) ; chr7:g.150958251G>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958251G>C , CM000669.2:g.150958251G>C	GRCh38
NC_000007.13:g.150655339G>C , CM000669.1:g.150655339G>C	GRCh37
NC_000007.12:g.150286272G>C	NCBI36
NG_008916.1:g.24676C>G , LRG_288:g.24676C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1557C>G
ENST00000262186.10:c.724C>G MANE Select	ENSP00000262186.5:p.Arg242Gly
ENST00000262186.9:c.724C>G	ENSP00000262186.5:p.Arg242Gly
ENST00000430723.4:c.376C>G	ENSP00000387657.4:p.Arg126Gly
ENST00000532957.5:n.947C>G
NM_000238.3:c.724C>G , LRG_288t1:c.724C>G	NP_000229.1:p.Arg242Gly
NM_172056.2:c.724C>G , LRG_288t2:c.724C>G	NP_742053.1:p.Arg242Gly
XM_011516185.1:c.424C>G	XP_011514487.1:p.Arg142Gly
XM_011516186.1:c.724C>G	XP_011514488.1:p.Arg242Gly
XM_011516185.2:c.424C>G	XP_011514487.1:p.Arg142Gly
XM_011516186.3:c.724C>G	XP_011514488.1:p.Arg242Gly
XM_017012195.1:c.574C>G	XP_016867684.1:p.Arg192Gly
XM_017012196.1:c.547C>G	XP_016867685.1:p.Arg183Gly
NM_000238.4:c.724C>G MANE Select	NP_000229.1:p.Arg242Gly