Canonical Allele Identifier: CA006916

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67409
• ClinVar RCV Id: RCV000058133 ; RCV000181874 ; RCV000464496 ; RCV004549484
• dbSNP Id: rs199473006
• MyVariant Identifiers: chr7:g.150646000G>A (hg19) ; chr7:g.150948912G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3369C>T
ENST00000262186.10:c.2536C>T MANE Select	ENSP00000262186.5:p.Pro846Ser
ENST00000330883.9:c.1516C>T	ENSP00000328531.4:p.Pro506Ser
ENST00000262186.9:c.2536C>T	ENSP00000262186.5:p.Pro846Ser
ENST00000330883.8:c.1516C>T	ENSP00000328531.4:p.Pro506Ser
NM_000238.3:c.2536C>T , LRG_288t1:c.2536C>T	NP_000229.1:p.Pro846Ser
NM_172057.2:c.1516C>T , LRG_288t3:c.1516C>T	NP_742054.1:p.Pro506Ser
XM_011516185.1:c.2236C>T	XP_011514487.1:p.Pro746Ser
XM_011516186.1:c.2536C>T	XP_011514488.1:p.Pro846Ser
XM_011516185.2:c.2236C>T	XP_011514487.1:p.Pro746Ser
XM_011516186.3:c.2536C>T	XP_011514488.1:p.Pro846Ser
XM_017012195.1:c.2386C>T	XP_016867684.1:p.Pro796Ser
XM_017012196.1:c.2359C>T	XP_016867685.1:p.Pro787Ser
NM_000238.4:c.2536C>T MANE Select	NP_000229.1:p.Pro846Ser
NM_172057.3:c.1516C>T	NP_742054.1:p.Pro506Ser