Canonical Allele Identifier: CA835215643

Gene: KCNH2

Linked Data

• dbSNP Id: rs1456200065
• gnomAD v3: 7-150977384-G-A
• gnomAD v4: 7-150977384-G-A
• MyVariant Identifiers: chr7:g.150674472G>A (hg19) ; chr7:g.150977384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977384G>A , CM000669.2:g.150977384G>A	GRCh38
NC_000007.13:g.150674472G>A , CM000669.1:g.150674472G>A	GRCh37
NC_000007.12:g.150305405G>A	NCBI36
NG_008916.1:g.5543C>T , LRG_288:g.5543C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.76+454C>T MANE Select	ENSP00000262186.5:n.76+454C>T
ENST00000262186.9:c.76+454C>T	ENSP00000262186.5:n.76+454C>T
ENST00000430723.4:c.-102+454C>T	ENSP00000387657.4:n.-102+454C>T
ENST00000532957.5:n.299+454C>T
NM_000238.3:c.76+454C>T , LRG_288t1:c.76+454C>T	NP_000229.1:n.76+454C>T
NM_172056.2:c.76+454C>T , LRG_288t2:c.76+454C>T	NP_742053.1:n.76+454C>T
XM_011516186.1:c.76+454C>T	XP_011514488.1:n.76+454C>T
XM_011516186.3:c.76+454C>T	XP_011514488.1:n.76+454C>T
NM_000238.4:c.76+454C>T MANE Select	NP_000229.1:n.76+454C>T