Canonical Allele Identifier: CA004159

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67161
• ClinVar RCV Id: RCV000057868 ; RCV000181776 ; RCV001055822
• dbSNP Id: rs199472888
• MyVariant Identifiers: chr7:g.150654506G>A (hg19) ; chr7:g.150957418G>A (hg38)
• PubMed: PMID:11222472 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957418G>A , CM000669.2:g.150957418G>A	GRCh38
NC_000007.13:g.150654506G>A , CM000669.1:g.150654506G>A	GRCh37
NC_000007.12:g.150285439G>A	NCBI36
NG_008916.1:g.25509C>T , LRG_288:g.25509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1834C>T
ENST00000262186.10:c.1001C>T MANE Select	ENSP00000262186.5:p.Pro334Leu
ENST00000262186.9:c.1001C>T	ENSP00000262186.5:p.Pro334Leu
ENST00000430723.4:c.653C>T	ENSP00000387657.4:p.Pro218Leu
ENST00000532957.5:n.1224C>T
NM_000238.3:c.1001C>T , LRG_288t1:c.1001C>T	NP_000229.1:p.Pro334Leu
NM_172056.2:c.1001C>T , LRG_288t2:c.1001C>T	NP_742053.1:p.Pro334Leu
XM_011516185.1:c.701C>T	XP_011514487.1:p.Pro234Leu
XM_011516186.1:c.1001C>T	XP_011514488.1:p.Pro334Leu
XM_011516185.2:c.701C>T	XP_011514487.1:p.Pro234Leu
XM_011516186.3:c.1001C>T	XP_011514488.1:p.Pro334Leu
XM_017012195.1:c.851C>T	XP_016867684.1:p.Pro284Leu
XM_017012196.1:c.824C>T	XP_016867685.1:p.Pro275Leu
NM_000238.4:c.1001C>T MANE Select	NP_000229.1:p.Pro334Leu