Canonical Allele Identifier: CA008645

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67516
• ClinVar RCV Id: RCV000058245 ; RCV000690929 ; RCV000786144 ; RCV002483101 ; RCV003298115
• dbSNP Id: rs199472869
• gnomAD v3: 7-150958323-T-C
• gnomAD v4: 7-150958323-T-C
• MyVariant Identifiers: chr7:g.150655411T>C (hg19) ; chr7:g.150958323T>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958323T>C , CM000669.2:g.150958323T>C	GRCh38
NC_000007.13:g.150655411T>C , CM000669.1:g.150655411T>C	GRCh37
NC_000007.12:g.150286344T>C	NCBI36
NG_008916.1:g.24604A>G , LRG_288:g.24604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1485A>G
ENST00000262186.10:c.652A>G MANE Select	ENSP00000262186.5:p.Met218Val
ENST00000262186.9:c.652A>G	ENSP00000262186.5:p.Met218Val
ENST00000430723.4:c.304A>G	ENSP00000387657.4:p.Met102Val
ENST00000532957.5:n.875A>G
NM_000238.3:c.652A>G , LRG_288t1:c.652A>G	NP_000229.1:p.Met218Val
NM_172056.2:c.652A>G , LRG_288t2:c.652A>G	NP_742053.1:p.Met218Val
XM_011516185.1:c.352A>G	XP_011514487.1:p.Met118Val
XM_011516186.1:c.652A>G	XP_011514488.1:p.Met218Val
XM_011516185.2:c.352A>G	XP_011514487.1:p.Met118Val
XM_011516186.3:c.652A>G	XP_011514488.1:p.Met218Val
XM_017012195.1:c.502A>G	XP_016867684.1:p.Met168Val
XM_017012196.1:c.475A>G	XP_016867685.1:p.Met159Val
NM_000238.4:c.652A>G MANE Select	NP_000229.1:p.Met218Val