Canonical Allele Identifier: CA1752417058

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1994457
• ClinVar RCV Id: RCV002819045
• dbSNP Id: rs1315999663

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957519C>A , CM000669.2:g.150957519C>A	GRCh38
NC_000007.13:g.150654607C>A , CM000669.1:g.150654607C>A	GRCh37
NC_000007.12:g.150285540C>A	NCBI36
NG_008916.1:g.25408G>T , LRG_288:g.25408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-17G>T
ENST00000262186.10:c.917-17G>T MANE Select	ENSP00000262186.5:n.917-17G>T
ENST00000262186.9:c.917-17G>T	ENSP00000262186.5:n.917-17G>T
ENST00000430723.4:c.569-17G>T	ENSP00000387657.4:n.569-17G>T
ENST00000532957.5:n.1140-17G>T
NM_000238.3:c.917-17G>T , LRG_288t1:c.917-17G>T	NP_000229.1:n.917-17G>T
NM_172056.2:c.917-17G>T , LRG_288t2:c.917-17G>T	NP_742053.1:n.917-17G>T
XM_011516185.1:c.617-17G>T	XP_011514487.1:n.617-17G>T
XM_011516186.1:c.917-17G>T	XP_011514488.1:n.917-17G>T
XM_011516185.2:c.617-17G>T	XP_011514487.1:n.617-17G>T
XM_011516186.3:c.917-17G>T	XP_011514488.1:n.917-17G>T
XM_017012195.1:c.767-17G>T	XP_016867684.1:n.767-17G>T
XM_017012196.1:c.740-17G>T	XP_016867685.1:n.740-17G>T
NM_000238.4:c.917-17G>T MANE Select	NP_000229.1:n.917-17G>T