Canonical Allele Identifier: CA006897

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67408
• ClinVar RCV Id: RCV000058132
• dbSNP Id: rs199473006
• MyVariant Identifiers: chr7:g.150646000G>T (hg19) ; chr7:g.150948912G>T (hg38)
• PubMed: PMID:18441445 ; PMID:20975234 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948912G>T , CM000669.2:g.150948912G>T	GRCh38
NC_000007.13:g.150646000G>T , CM000669.1:g.150646000G>T	GRCh37
NC_000007.12:g.150276933G>T	NCBI36
NG_008916.1:g.34015C>A , LRG_288:g.34015C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3369C>A
ENST00000262186.10:c.2536C>A MANE Select	ENSP00000262186.5:p.Pro846Thr
ENST00000330883.9:c.1516C>A	ENSP00000328531.4:p.Pro506Thr
ENST00000262186.9:c.2536C>A	ENSP00000262186.5:p.Pro846Thr
ENST00000330883.8:c.1516C>A	ENSP00000328531.4:p.Pro506Thr
NM_000238.3:c.2536C>A , LRG_288t1:c.2536C>A	NP_000229.1:p.Pro846Thr
NM_172057.2:c.1516C>A , LRG_288t3:c.1516C>A	NP_742054.1:p.Pro506Thr
XM_011516185.1:c.2236C>A	XP_011514487.1:p.Pro746Thr
XM_011516186.1:c.2536C>A	XP_011514488.1:p.Pro846Thr
XM_011516185.2:c.2236C>A	XP_011514487.1:p.Pro746Thr
XM_011516186.3:c.2536C>A	XP_011514488.1:p.Pro846Thr
XM_017012195.1:c.2386C>A	XP_016867684.1:p.Pro796Thr
XM_017012196.1:c.2359C>A	XP_016867685.1:p.Pro787Thr
NM_000238.4:c.2536C>A MANE Select	NP_000229.1:p.Pro846Thr
NM_172057.3:c.1516C>A	NP_742054.1:p.Pro506Thr