Canonical Allele Identifier: CA006990

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67416
• ClinVar RCV Id: RCV000058140
• dbSNP Id: rs121912513
• MyVariant Identifiers: chr7:g.150645954T>G (hg19) ; chr7:g.150948866T>G (hg38)
• PubMed: PMID:15051636 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948866T>G , CM000669.2:g.150948866T>G	GRCh38
NC_000007.13:g.150645954T>G , CM000669.1:g.150645954T>G	GRCh37
NC_000007.12:g.150276887T>G	NCBI36
NG_008916.1:g.34061A>C , LRG_288:g.34061A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3415A>C
ENST00000262186.10:c.2582A>C MANE Select	ENSP00000262186.5:p.Asn861Thr
ENST00000330883.9:c.1562A>C	ENSP00000328531.4:p.Asn521Thr
ENST00000262186.9:c.2582A>C	ENSP00000262186.5:p.Asn861Thr
ENST00000330883.8:c.1562A>C	ENSP00000328531.4:p.Asn521Thr
NM_000238.3:c.2582A>C , LRG_288t1:c.2582A>C	NP_000229.1:p.Asn861Thr
NM_172057.2:c.1562A>C , LRG_288t3:c.1562A>C	NP_742054.1:p.Asn521Thr
XM_011516185.1:c.2282A>C	XP_011514487.1:p.Asn761Thr
XM_011516186.1:c.2582A>C	XP_011514488.1:p.Asn861Thr
XM_011516185.2:c.2282A>C	XP_011514487.1:p.Asn761Thr
XM_011516186.3:c.2582A>C	XP_011514488.1:p.Asn861Thr
XM_017012195.1:c.2432A>C	XP_016867684.1:p.Asn811Thr
XM_017012196.1:c.2405A>C	XP_016867685.1:p.Asn802Thr
NM_000238.4:c.2582A>C MANE Select	NP_000229.1:p.Asn861Thr
NM_172057.3:c.1562A>C	NP_742054.1:p.Asn521Thr