Canonical Allele Identifier: CA004504

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67189
• ClinVar RCV Id: RCV000057896
• dbSNP Id: rs199472839
• MyVariant Identifiers: chr7:g.150671973T>A (hg19) ; chr7:g.150974885T>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974885T>A , CM000669.2:g.150974885T>A	GRCh38
NC_000007.13:g.150671973T>A , CM000669.1:g.150671973T>A	GRCh37
NC_000007.12:g.150302906T>A	NCBI36
NG_008916.1:g.8042A>T , LRG_288:g.8042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.133A>T MANE Select	ENSP00000262186.5:p.Asn45Tyr
ENST00000262186.9:c.133A>T	ENSP00000262186.5:p.Asn45Tyr
ENST00000430723.4:c.-45A>T	ENSP00000387657.4:n.-45A>T
ENST00000532957.5:n.356A>T
NM_000238.3:c.133A>T , LRG_288t1:c.133A>T	NP_000229.1:p.Asn45Tyr
NM_172056.2:c.133A>T , LRG_288t2:c.133A>T	NP_742053.1:p.Asn45Tyr
XM_011516186.1:c.133A>T	XP_011514488.1:p.Asn45Tyr
XM_011516186.3:c.133A>T	XP_011514488.1:p.Asn45Tyr
XM_017012196.1:c.-45A>T	XP_016867685.1:n.-45A>T
NM_000238.4:c.133A>T MANE Select	NP_000229.1:p.Asn45Tyr