Canonical Allele Identifier: CA369853533

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3073586
• ClinVar RCV Id: RCV004016592
• dbSNP Id: rs1190723187
• gnomAD v2: 7-150644946-C-T
• gnomAD v3: 7-150947858-C-T
• gnomAD v4: 7-150947858-C-T
• MyVariant Identifiers: chr7:g.150644946C>T (hg19) ; chr7:g.150947858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947858C>T , CM000669.2:g.150947858C>T	GRCh38
NC_000007.13:g.150644946C>T , CM000669.1:g.150644946C>T	GRCh37
NC_000007.12:g.150275879C>T	NCBI36
NG_008916.1:g.35069G>A , LRG_288:g.35069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3546G>A
ENST00000262186.10:c.2713G>A MANE Select	ENSP00000262186.5:p.Val905Met
ENST00000330883.9:c.1693G>A	ENSP00000328531.4:p.Val565Met
ENST00000262186.9:c.2713G>A	ENSP00000262186.5:p.Val905Met
ENST00000330883.8:c.1693G>A	ENSP00000328531.4:p.Val565Met
NM_000238.3:c.2713G>A , LRG_288t1:c.2713G>A	NP_000229.1:p.Val905Met
NM_172057.2:c.1693G>A , LRG_288t3:c.1693G>A	NP_742054.1:p.Val565Met
XM_011516185.1:c.2413G>A	XP_011514487.1:p.Val805Met
XM_011516186.1:c.2693-167G>A	XP_011514488.1:n.2693-167G>A
XM_011516185.2:c.2413G>A	XP_011514487.1:p.Val805Met
XM_011516186.3:c.2693-167G>A	XP_011514488.1:n.2693-167G>A
XM_017012195.1:c.2563G>A	XP_016867684.1:p.Val855Met
XM_017012196.1:c.2536G>A	XP_016867685.1:p.Val846Met
NM_000238.4:c.2713G>A MANE Select	NP_000229.1:p.Val905Met
NM_172057.3:c.1693G>A	NP_742054.1:p.Val565Met