Canonical Allele Identifier: CA169088245

Gene: KCNH2

Linked Data

• dbSNP Id: rs971089919
• gnomAD v2: 7-150667138-G-A
• gnomAD v3: 7-150970050-G-A
• gnomAD v4: 7-150970050-G-A
• MyVariant Identifiers: chr7:g.150667138G>A (hg19) ; chr7:g.150970050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970050G>A , CM000669.2:g.150970050G>A	GRCh38
NC_000007.13:g.150667138G>A , CM000669.1:g.150667138G>A	GRCh37
NC_000007.12:g.150298071G>A	NCBI36
NG_008916.1:g.12877C>T , LRG_288:g.12877C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+4661C>T MANE Select	ENSP00000262186.5:n.307+4661C>T
ENST00000262186.9:c.307+4661C>T	ENSP00000262186.5:n.307+4661C>T
ENST00000430723.4:c.130+4661C>T	ENSP00000387657.4:n.130+4661C>T
ENST00000532957.5:n.530+4661C>T
NM_000238.3:c.307+4661C>T , LRG_288t1:c.307+4661C>T	NP_000229.1:n.307+4661C>T
NM_172056.2:c.307+4661C>T , LRG_288t2:c.307+4661C>T	NP_742053.1:n.307+4661C>T
XM_011516185.1:c.7+4320C>T	XP_011514487.1:n.7+4320C>T
XM_011516186.1:c.307+4661C>T	XP_011514488.1:n.307+4661C>T
XM_011516185.2:c.7+4320C>T	XP_011514487.1:n.7+4320C>T
XM_011516186.3:c.307+4661C>T	XP_011514488.1:n.307+4661C>T
XM_017012196.1:c.130+4661C>T	XP_016867685.1:n.130+4661C>T
NM_000238.4:c.307+4661C>T MANE Select	NP_000229.1:n.307+4661C>T