Canonical Allele Identifier: CA458646096

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2915838
• ClinVar RCV Id: RCV003649076
• gnomAD v4: 7-150957483-G-A
• MyVariant Identifiers: chr7:g.150654571G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957483G>A , CM000669.2:g.150957483G>A	GRCh38
NC_000007.13:g.150654571G>A , CM000669.1:g.150654571G>A	GRCh37
NC_000007.12:g.150285504G>A	NCBI36
NG_008916.1:g.25444C>T , LRG_288:g.25444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1769C>T
ENST00000262186.10:c.936C>T MANE Select	ENSP00000262186.5:p.Arg312=
ENST00000262186.9:c.936C>T	ENSP00000262186.5:p.Arg312=
ENST00000430723.4:c.588C>T	ENSP00000387657.4:p.Arg196=
ENST00000532957.5:n.1159C>T
NM_000238.3:c.936C>T , LRG_288t1:c.936C>T	NP_000229.1:p.Arg312=
NM_172056.2:c.936C>T , LRG_288t2:c.936C>T	NP_742053.1:p.Arg312=
XM_011516185.1:c.636C>T	XP_011514487.1:p.Arg212=
XM_011516186.1:c.936C>T	XP_011514488.1:p.Arg312=
XM_011516185.2:c.636C>T	XP_011514487.1:p.Arg212=
XM_011516186.3:c.936C>T	XP_011514488.1:p.Arg312=
XM_017012195.1:c.786C>T	XP_016867684.1:p.Arg262=
XM_017012196.1:c.759C>T	XP_016867685.1:p.Arg253=
NM_000238.4:c.936C>T MANE Select	NP_000229.1:p.Arg312=