Canonical Allele Identifier: CA007737

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14442
• ClinVar RCV Id: RCV000015525 ; RCV000058186 ; RCV000181948 ; RCV000617723 ; RCV002247344
• dbSNP Id: rs121912515
• MyVariant Identifiers: chr7:g.150671808G>C (hg19) ; chr7:g.150974720G>C (hg38)
• PubMed: PMID:16922724 ; PMID:22581653 ; PMID:25417810

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974720G>C , CM000669.2:g.150974720G>C	GRCh38
NC_000007.13:g.150671808G>C , CM000669.1:g.150671808G>C	GRCh37
NC_000007.12:g.150302741G>C	NCBI36
NG_008916.1:g.8207C>G , LRG_288:g.8207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.298C>G MANE Select	ENSP00000262186.5:p.Arg100Gly
ENST00000262186.9:c.298C>G	ENSP00000262186.5:p.Arg100Gly
ENST00000430723.4:c.121C>G	ENSP00000387657.4:p.Arg41Gly
ENST00000532957.5:n.521C>G
NM_000238.3:c.298C>G , LRG_288t1:c.298C>G	NP_000229.1:p.Arg100Gly
NM_172056.2:c.298C>G , LRG_288t2:c.298C>G	NP_742053.1:p.Arg100Gly
XM_011516186.1:c.298C>G	XP_011514488.1:p.Arg100Gly
XM_011516186.3:c.298C>G	XP_011514488.1:p.Arg100Gly
XM_017012196.1:c.121C>G	XP_016867685.1:p.Arg41Gly
NM_000238.4:c.298C>G MANE Select	NP_000229.1:p.Arg100Gly