Canonical Allele Identifier: CA036500

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1250434
• ClinVar RCV Id: RCV001652684
• dbSNP Id: rs139968479
• ExAC: 7:150671769 G / A
• gnomAD v2: 7-150671769-G-A
• gnomAD v3: 7-150974681-G-A
• gnomAD v4: 7-150974681-G-A
• MyVariant Identifiers: chr7:g.150671769G>A (hg19) ; chr7:g.150974681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974681G>A , CM000669.2:g.150974681G>A	GRCh38
NC_000007.13:g.150671769G>A , CM000669.1:g.150671769G>A	GRCh37
NC_000007.12:g.150302702G>A	NCBI36
NG_008916.1:g.8246C>T , LRG_288:g.8246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+30C>T MANE Select	ENSP00000262186.5:n.307+30C>T
ENST00000262186.9:c.307+30C>T	ENSP00000262186.5:n.307+30C>T
ENST00000430723.4:c.130+30C>T	ENSP00000387657.4:n.130+30C>T
ENST00000532957.5:n.530+30C>T
NM_000238.3:c.307+30C>T , LRG_288t1:c.307+30C>T	NP_000229.1:n.307+30C>T
NM_172056.2:c.307+30C>T , LRG_288t2:c.307+30C>T	NP_742053.1:n.307+30C>T
XM_011516186.1:c.307+30C>T	XP_011514488.1:n.307+30C>T
XM_011516186.3:c.307+30C>T	XP_011514488.1:n.307+30C>T
XM_017012196.1:c.130+30C>T	XP_016867685.1:n.130+30C>T
NM_000238.4:c.307+30C>T MANE Select	NP_000229.1:n.307+30C>T