Canonical Allele Identifier: CA006358

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67376
• ClinVar RCV Id: RCV000058096 ; RCV000182051 ; RCV001060143
• dbSNP Id: rs199473422
• MyVariant Identifiers: chr7:g.150671885G>C (hg19) ; chr7:g.150974797G>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974797G>C , CM000669.2:g.150974797G>C	GRCh38
NC_000007.13:g.150671885G>C , CM000669.1:g.150671885G>C	GRCh37
NC_000007.12:g.150302818G>C	NCBI36
NG_008916.1:g.8130C>G , LRG_288:g.8130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.221C>G MANE Select	ENSP00000262186.5:p.Thr74Arg
ENST00000262186.9:c.221C>G	ENSP00000262186.5:p.Thr74Arg
ENST00000430723.4:c.44C>G	ENSP00000387657.4:p.Thr15Arg
ENST00000532957.5:n.444C>G
NM_000238.3:c.221C>G , LRG_288t1:c.221C>G	NP_000229.1:p.Thr74Arg
NM_172056.2:c.221C>G , LRG_288t2:c.221C>G	NP_742053.1:p.Thr74Arg
XM_011516186.1:c.221C>G	XP_011514488.1:p.Thr74Arg
XM_011516186.3:c.221C>G	XP_011514488.1:p.Thr74Arg
XM_017012196.1:c.44C>G	XP_016867685.1:p.Thr15Arg
NM_000238.4:c.221C>G MANE Select	NP_000229.1:p.Thr74Arg