Canonical Allele Identifier: CA006293

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67368
• ClinVar RCV Id: RCV000058088 ; RCV000463612 ; RCV000588659 ; RCV000786141 ; RCV001258077
• dbSNP Id: rs199473421
• MyVariant Identifiers: chr7:g.150671891G>T (hg19) ; chr7:g.150974803G>T (hg38)
• PubMed: PMID:10973849 ; PMID:11854117 ; PMID:19716085 ; PMID:21185501 ; PMID:21440677 ; PMID:22581653 ; PMID:25417810

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974803G>T , CM000669.2:g.150974803G>T	GRCh38
NC_000007.13:g.150671891G>T , CM000669.1:g.150671891G>T	GRCh37
NC_000007.12:g.150302824G>T	NCBI36
NG_008916.1:g.8124C>A , LRG_288:g.8124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.215C>A MANE Select	ENSP00000262186.5:p.Pro72Gln
ENST00000262186.9:c.215C>A	ENSP00000262186.5:p.Pro72Gln
ENST00000430723.4:c.38C>A	ENSP00000387657.4:p.Pro13Gln
ENST00000532957.5:n.438C>A
NM_000238.3:c.215C>A , LRG_288t1:c.215C>A	NP_000229.1:p.Pro72Gln
NM_172056.2:c.215C>A , LRG_288t2:c.215C>A	NP_742053.1:p.Pro72Gln
XM_011516186.1:c.215C>A	XP_011514488.1:p.Pro72Gln
XM_011516186.3:c.215C>A	XP_011514488.1:p.Pro72Gln
XM_017012196.1:c.38C>A	XP_016867685.1:p.Pro13Gln
NM_000238.4:c.215C>A MANE Select	NP_000229.1:p.Pro72Gln