Canonical Allele Identifier: CA169088185

Gene: KCNH2

Linked Data

• dbSNP Id: rs1009082777
• gnomAD v3: 7-150969958-C-T
• gnomAD v4: 7-150969958-C-T
• MyVariant Identifiers: chr7:g.150667046C>T (hg19) ; chr7:g.150969958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150969958C>T , CM000669.2:g.150969958C>T	GRCh38
NC_000007.13:g.150667046C>T , CM000669.1:g.150667046C>T	GRCh37
NC_000007.12:g.150297979C>T	NCBI36
NG_008916.1:g.12969G>A , LRG_288:g.12969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+4753G>A MANE Select	ENSP00000262186.5:n.307+4753G>A
ENST00000262186.9:c.307+4753G>A	ENSP00000262186.5:n.307+4753G>A
ENST00000430723.4:c.130+4753G>A	ENSP00000387657.4:n.130+4753G>A
ENST00000532957.5:n.530+4753G>A
NM_000238.3:c.307+4753G>A , LRG_288t1:c.307+4753G>A	NP_000229.1:n.307+4753G>A
NM_172056.2:c.307+4753G>A , LRG_288t2:c.307+4753G>A	NP_742053.1:n.307+4753G>A
XM_011516185.1:c.7+4412G>A	XP_011514487.1:n.7+4412G>A
XM_011516186.1:c.307+4753G>A	XP_011514488.1:n.307+4753G>A
XM_011516185.2:c.7+4412G>A	XP_011514487.1:n.7+4412G>A
XM_011516186.3:c.307+4753G>A	XP_011514488.1:n.307+4753G>A
XM_017012196.1:c.130+4753G>A	XP_016867685.1:n.130+4753G>A
NM_000238.4:c.307+4753G>A MANE Select	NP_000229.1:n.307+4753G>A