Canonical Allele Identifier: CA004210

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200321
• ClinVar RCV Id: RCV000181779 ; RCV001039878 ; RCV002453650 ; RCV003327377
• dbSNP Id: rs794728364
• gnomAD v4: 7-150957323-G-A
• MyVariant Identifiers: chr7:g.150654411G>A (hg19) ; chr7:g.150957323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957323G>A , CM000669.2:g.150957323G>A	GRCh38
NC_000007.13:g.150654411G>A , CM000669.1:g.150654411G>A	GRCh37
NC_000007.12:g.150285344G>A	NCBI36
NG_008916.1:g.25604C>T , LRG_288:g.25604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1929C>T
ENST00000262186.10:c.1096C>T MANE Select	ENSP00000262186.5:p.Arg366Ter
ENST00000262186.9:c.1096C>T	ENSP00000262186.5:p.Arg366Ter
ENST00000430723.4:c.748C>T	ENSP00000387657.4:p.Arg250Ter
ENST00000532957.5:n.1319C>T
NM_000238.3:c.1096C>T , LRG_288t1:c.1096C>T	NP_000229.1:p.Arg366Ter
NM_172056.2:c.1096C>T , LRG_288t2:c.1096C>T	NP_742053.1:p.Arg366Ter
XM_011516185.1:c.796C>T	XP_011514487.1:p.Arg266Ter
XM_011516186.1:c.1096C>T	XP_011514488.1:p.Arg366Ter
XM_011516185.2:c.796C>T	XP_011514487.1:p.Arg266Ter
XM_011516186.3:c.1096C>T	XP_011514488.1:p.Arg366Ter
XM_017012195.1:c.946C>T	XP_016867684.1:p.Arg316Ter
XM_017012196.1:c.919C>T	XP_016867685.1:p.Arg307Ter
NM_000238.4:c.1096C>T MANE Select	NP_000229.1:p.Arg366Ter