Canonical Allele Identifier: CA006311

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67371
• ClinVar RCV Id: RCV000058091 ; RCV000458802
• dbSNP Id: rs199472986
• MyVariant Identifiers: chr7:g.150647492G>A (hg19) ; chr7:g.150950404G>A (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950404G>A , CM000669.2:g.150950404G>A	GRCh38
NC_000007.13:g.150647492G>A , CM000669.1:g.150647492G>A	GRCh37
NC_000007.12:g.150278425G>A	NCBI36
NG_008916.1:g.32523C>T , LRG_288:g.32523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1460C>T
ENST00000684241.1:n.2995C>T
ENST00000262186.10:c.2162C>T MANE Select	ENSP00000262186.5:p.Pro721Leu
ENST00000330883.9:c.1142C>T	ENSP00000328531.4:p.Pro381Leu
ENST00000262186.9:c.2162C>T	ENSP00000262186.5:p.Pro721Leu
ENST00000330883.8:c.1142C>T	ENSP00000328531.4:p.Pro381Leu
ENST00000430723.4:c.1814C>T	ENSP00000387657.4:p.Pro605Leu
ENST00000461280.1:n.1449C>T
ENST00000473610.5:n.1794C>T
ENST00000532957.5:n.2385C>T
NM_000238.3:c.2162C>T , LRG_288t1:c.2162C>T	NP_000229.1:p.Pro721Leu
NM_001204798.1:c.1142C>T	NP_001191727.1:p.Pro381Leu
NM_172056.2:c.2162C>T , LRG_288t2:c.2162C>T	NP_742053.1:p.Pro721Leu
NM_172057.2:c.1142C>T , LRG_288t3:c.1142C>T	NP_742054.1:p.Pro381Leu
XM_011516185.1:c.1862C>T	XP_011514487.1:p.Pro621Leu
XM_011516186.1:c.2162C>T	XP_011514488.1:p.Pro721Leu
XM_011516185.2:c.1862C>T	XP_011514487.1:p.Pro621Leu
XM_011516186.3:c.2162C>T	XP_011514488.1:p.Pro721Leu
XM_017012195.1:c.2012C>T	XP_016867684.1:p.Pro671Leu
XM_017012196.1:c.1985C>T	XP_016867685.1:p.Pro662Leu
NM_000238.4:c.2162C>T MANE Select	NP_000229.1:p.Pro721Leu
NM_001204798.2:c.1142C>T	NP_001191727.1:p.Pro381Leu
NM_172057.3:c.1142C>T	NP_742054.1:p.Pro381Leu