Canonical Allele Identifier: CA007577

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67449
• ClinVar RCV Id: RCV000058176 ; RCV000756285 ; RCV001841730 ; RCV002433557 ; RCV002483097
• dbSNP Id: rs199473014
• ExAC: 7:150644772 G / T
• gnomAD v2: 7-150644772-G-T
• gnomAD v3: 7-150947684-G-T
• gnomAD v4: 7-150947684-G-T
• MyVariant Identifiers: chr7:g.150644772G>T (hg19) ; chr7:g.150947684G>T (hg38)
• PubMed: PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947684G>T , CM000669.2:g.150947684G>T	GRCh38
NC_000007.13:g.150644772G>T , CM000669.1:g.150644772G>T	GRCh37
NC_000007.12:g.150275705G>T	NCBI36
NG_008916.1:g.35243C>A , LRG_288:g.35243C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3720C>A
ENST00000262186.10:c.2887C>A MANE Select	ENSP00000262186.5:p.Pro963Thr
ENST00000330883.9:c.1867C>A	ENSP00000328531.4:p.Pro623Thr
ENST00000262186.9:c.2887C>A	ENSP00000262186.5:p.Pro963Thr
ENST00000330883.8:c.1867C>A	ENSP00000328531.4:p.Pro623Thr
NM_000238.3:c.2887C>A , LRG_288t1:c.2887C>A	NP_000229.1:p.Pro963Thr
NM_172057.2:c.1867C>A , LRG_288t3:c.1867C>A	NP_742054.1:p.Pro623Thr
XM_011516185.1:c.2587C>A	XP_011514487.1:p.Pro863Thr
XM_011516186.1:c.2700C>A	XP_011514488.1:p.Gly900=
XM_011516185.2:c.2587C>A	XP_011514487.1:p.Pro863Thr
XM_011516186.3:c.2700C>A	XP_011514488.1:p.Gly900=
XM_017012195.1:c.2737C>A	XP_016867684.1:p.Pro913Thr
XM_017012196.1:c.2710C>A	XP_016867685.1:p.Pro904Thr
NM_000238.4:c.2887C>A MANE Select	NP_000229.1:p.Pro963Thr
NM_172057.3:c.1867C>A	NP_742054.1:p.Pro623Thr