Canonical Allele Identifier: CA369862704

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 652662
• ClinVar RCV Id: RCV000808256
• dbSNP Id: rs199472872
• gnomAD v2: 7-150655339-G-A
• gnomAD v3: 7-150958251-G-A
• gnomAD v4: 7-150958251-G-A
• MyVariant Identifiers: chr7:g.150655339G>A (hg19) ; chr7:g.150958251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958251G>A , CM000669.2:g.150958251G>A	GRCh38
NC_000007.13:g.150655339G>A , CM000669.1:g.150655339G>A	GRCh37
NC_000007.12:g.150286272G>A	NCBI36
NG_008916.1:g.24676C>T , LRG_288:g.24676C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1557C>T
ENST00000262186.10:c.724C>T MANE Select	ENSP00000262186.5:p.Arg242Cys
ENST00000262186.9:c.724C>T	ENSP00000262186.5:p.Arg242Cys
ENST00000430723.4:c.376C>T	ENSP00000387657.4:p.Arg126Cys
ENST00000532957.5:n.947C>T
NM_000238.3:c.724C>T , LRG_288t1:c.724C>T	NP_000229.1:p.Arg242Cys
NM_172056.2:c.724C>T , LRG_288t2:c.724C>T	NP_742053.1:p.Arg242Cys
XM_011516185.1:c.424C>T	XP_011514487.1:p.Arg142Cys
XM_011516186.1:c.724C>T	XP_011514488.1:p.Arg242Cys
XM_011516185.2:c.424C>T	XP_011514487.1:p.Arg142Cys
XM_011516186.3:c.724C>T	XP_011514488.1:p.Arg242Cys
XM_017012195.1:c.574C>T	XP_016867684.1:p.Arg192Cys
XM_017012196.1:c.547C>T	XP_016867685.1:p.Arg183Cys
NM_000238.4:c.724C>T MANE Select	NP_000229.1:p.Arg242Cys