Canonical Allele Identifier: CA006187

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67358
• ClinVar RCV Id: RCV000058078 ; RCV002470746
• dbSNP Id: rs199473665
• MyVariant Identifiers: chr7:g.150671900A>G (hg19) ; chr7:g.150974812A>G (hg38)
• PubMed: PMID:19862833 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974812A>G , CM000669.2:g.150974812A>G	GRCh38
NC_000007.13:g.150671900A>G , CM000669.1:g.150671900A>G	GRCh37
NC_000007.12:g.150302833A>G	NCBI36
NG_008916.1:g.8115T>C , LRG_288:g.8115T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.206T>C MANE Select	ENSP00000262186.5:p.Leu69Pro
ENST00000262186.9:c.206T>C	ENSP00000262186.5:p.Leu69Pro
ENST00000430723.4:c.29T>C	ENSP00000387657.4:p.Leu10Pro
ENST00000532957.5:n.429T>C
NM_000238.3:c.206T>C , LRG_288t1:c.206T>C	NP_000229.1:p.Leu69Pro
NM_172056.2:c.206T>C , LRG_288t2:c.206T>C	NP_742053.1:p.Leu69Pro
XM_011516186.1:c.206T>C	XP_011514488.1:p.Leu69Pro
XM_011516186.3:c.206T>C	XP_011514488.1:p.Leu69Pro
XM_017012196.1:c.29T>C	XP_016867685.1:p.Leu10Pro
NM_000238.4:c.206T>C MANE Select	NP_000229.1:p.Leu69Pro