Canonical Allele Identifier: CA369858763

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519393
• ClinVar RCV Id: RCV000620352
• dbSNP Id: rs199473518
• gnomAD v4: 7-150951700-C-A
• MyVariant Identifiers: chr7:g.150648788C>A (hg19) ; chr7:g.150951700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951700C>A , CM000669.2:g.150951700C>A	GRCh38
NC_000007.13:g.150648788C>A , CM000669.1:g.150648788C>A	GRCh37
NC_000007.12:g.150279721C>A	NCBI36
NG_008916.1:g.31227G>T , LRG_288:g.31227G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.991G>T
ENST00000684241.1:n.2526G>T
ENST00000262186.10:c.1693G>T MANE Select	ENSP00000262186.5:p.Ala565Ser
ENST00000330883.9:c.673G>T	ENSP00000328531.4:p.Ala225Ser
ENST00000262186.9:c.1693G>T	ENSP00000262186.5:p.Ala565Ser
ENST00000330883.8:c.673G>T	ENSP00000328531.4:p.Ala225Ser
ENST00000430723.4:c.1345G>T	ENSP00000387657.4:p.Ala449Ser
ENST00000461280.1:n.980G>T
ENST00000473610.5:n.998G>T
ENST00000532957.5:n.1916G>T
NM_000238.3:c.1693G>T , LRG_288t1:c.1693G>T	NP_000229.1:p.Ala565Ser
NM_001204798.1:c.673G>T	NP_001191727.1:p.Ala225Ser
NM_172056.2:c.1693G>T , LRG_288t2:c.1693G>T	NP_742053.1:p.Ala565Ser
NM_172057.2:c.673G>T , LRG_288t3:c.673G>T	NP_742054.1:p.Ala225Ser
XM_011516185.1:c.1393G>T	XP_011514487.1:p.Ala465Ser
XM_011516186.1:c.1693G>T	XP_011514488.1:p.Ala565Ser
XM_011516185.2:c.1393G>T	XP_011514487.1:p.Ala465Ser
XM_011516186.3:c.1693G>T	XP_011514488.1:p.Ala565Ser
XM_017012195.1:c.1543G>T	XP_016867684.1:p.Ala515Ser
XM_017012196.1:c.1516G>T	XP_016867685.1:p.Ala506Ser
NM_000238.4:c.1693G>T MANE Select	NP_000229.1:p.Ala565Ser
NM_001204798.2:c.673G>T	NP_001191727.1:p.Ala225Ser
NM_172057.3:c.673G>T	NP_742054.1:p.Ala225Ser