Canonical Allele Identifier: CA369863590

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1982556
• ClinVar RCV Id: RCV002766804
• gnomAD v4: 7-150959574-G-A
• MyVariant Identifiers: chr7:g.150656662G>A (hg19) ; chr7:g.150959574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959574G>A , CM000669.2:g.150959574G>A	GRCh38
NC_000007.13:g.150656662G>A , CM000669.1:g.150656662G>A	GRCh37
NC_000007.12:g.150287595G>A	NCBI36
NG_008916.1:g.23353C>T , LRG_288:g.23353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1303C>T
ENST00000262186.10:c.470C>T MANE Select	ENSP00000262186.5:p.Pro157Leu
ENST00000262186.9:c.470C>T	ENSP00000262186.5:p.Pro157Leu
ENST00000430723.4:c.234+59C>T	ENSP00000387657.4:n.234+59C>T
ENST00000532957.5:n.693C>T
NM_000238.3:c.470C>T , LRG_288t1:c.470C>T	NP_000229.1:p.Pro157Leu
NM_172056.2:c.470C>T , LRG_288t2:c.470C>T	NP_742053.1:p.Pro157Leu
XM_011516185.1:c.170C>T	XP_011514487.1:p.Pro57Leu
XM_011516186.1:c.470C>T	XP_011514488.1:p.Pro157Leu
XM_011516185.2:c.170C>T	XP_011514487.1:p.Pro57Leu
XM_011516186.3:c.470C>T	XP_011514488.1:p.Pro157Leu
XM_017012195.1:c.320C>T	XP_016867684.1:p.Pro107Leu
XM_017012196.1:c.293C>T	XP_016867685.1:p.Pro98Leu
NM_000238.4:c.470C>T MANE Select	NP_000229.1:p.Pro157Leu