Canonical Allele Identifier: CA16618414

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 419715
• ClinVar RCV Id: RCV000483249 ; RCV001379769
• dbSNP Id: rs794728477
• gnomAD v4: 7-150959571-C-T
• COSMIC: COSM6051700 ; COSM6051701
• MyVariant Identifiers: chr7:g.150656659C>T (hg19) ; chr7:g.150959571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959571C>T , CM000669.2:g.150959571C>T	GRCh38
NC_000007.13:g.150656659C>T , CM000669.1:g.150656659C>T	GRCh37
NC_000007.12:g.150287592C>T	NCBI36
NG_008916.1:g.23356G>A , LRG_288:g.23356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+1G>A
ENST00000262186.10:c.472+1G>A MANE Select	ENSP00000262186.5:n.472+1G>A
ENST00000262186.9:c.472+1G>A	ENSP00000262186.5:n.472+1G>A
ENST00000430723.4:c.234+62G>A	ENSP00000387657.4:n.234+62G>A
ENST00000532957.5:n.695+1G>A
NM_000238.3:c.472+1G>A , LRG_288t1:c.472+1G>A	NP_000229.1:n.472+1G>A
NM_172056.2:c.472+1G>A , LRG_288t2:c.472+1G>A	NP_742053.1:n.472+1G>A
XM_011516185.1:c.172+1G>A	XP_011514487.1:n.172+1G>A
XM_011516186.1:c.472+1G>A	XP_011514488.1:n.472+1G>A
XM_011516185.2:c.172+1G>A	XP_011514487.1:n.172+1G>A
XM_011516186.3:c.472+1G>A	XP_011514488.1:n.472+1G>A
XM_017012195.1:c.322+1G>A	XP_016867684.1:n.322+1G>A
XM_017012196.1:c.295+1G>A	XP_016867685.1:n.295+1G>A
NM_000238.4:c.472+1G>A MANE Select	NP_000229.1:n.472+1G>A