Canonical Allele Identifier: CA008981

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67543
• ClinVar RCV Id: RCV000058272 ; RCV000157261 ; RCV000198797
• dbSNP Id: rs199472884
• MyVariant Identifiers: chr7:g.150655147C>G (hg19) ; chr7:g.150958059C>G (hg38)
• PubMed: PMID:18752142 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958059C>G , CM000669.2:g.150958059C>G	GRCh38
NC_000007.13:g.150655147C>G , CM000669.1:g.150655147C>G	GRCh37
NC_000007.12:g.150286080C>G	NCBI36
NG_008916.1:g.24868G>C , LRG_288:g.24868G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749G>C
ENST00000262186.10:c.916G>C MANE Select	ENSP00000262186.5:p.Gly306Arg
ENST00000262186.9:c.916G>C	ENSP00000262186.5:p.Gly306Arg
ENST00000430723.4:c.568G>C	ENSP00000387657.4:p.Gly190Arg
ENST00000532957.5:n.1139G>C
NM_000238.3:c.916G>C , LRG_288t1:c.916G>C	NP_000229.1:p.Gly306Arg
NM_172056.2:c.916G>C , LRG_288t2:c.916G>C	NP_742053.1:p.Gly306Arg
XM_011516185.1:c.616G>C	XP_011514487.1:p.Gly206Arg
XM_011516186.1:c.916G>C	XP_011514488.1:p.Gly306Arg
XM_011516185.2:c.616G>C	XP_011514487.1:p.Gly206Arg
XM_011516186.3:c.916G>C	XP_011514488.1:p.Gly306Arg
XM_017012195.1:c.766G>C	XP_016867684.1:p.Gly256Arg
XM_017012196.1:c.739G>C	XP_016867685.1:p.Gly247Arg
NM_000238.4:c.916G>C MANE Select	NP_000229.1:p.Gly306Arg