Canonical Allele Identifier: CA369853905

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2452994
• ClinVar RCV Id: RCV003177768
• MyVariant Identifiers: chr7:g.150645616C>T (hg19) ; chr7:g.150948528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948528C>T , CM000669.2:g.150948528C>T	GRCh38
NC_000007.13:g.150645616C>T , CM000669.1:g.150645616C>T	GRCh37
NC_000007.12:g.150276549C>T	NCBI36
NG_008916.1:g.34399G>A , LRG_288:g.34399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3441G>A
ENST00000262186.10:c.2608G>A MANE Select	ENSP00000262186.5:p.Gly870Ser
ENST00000330883.9:c.1588G>A	ENSP00000328531.4:p.Gly530Ser
ENST00000262186.9:c.2608G>A	ENSP00000262186.5:p.Gly870Ser
ENST00000330883.8:c.1588G>A	ENSP00000328531.4:p.Gly530Ser
NM_000238.3:c.2608G>A , LRG_288t1:c.2608G>A	NP_000229.1:p.Gly870Ser
NM_172057.2:c.1588G>A , LRG_288t3:c.1588G>A	NP_742054.1:p.Gly530Ser
XM_011516185.1:c.2308G>A	XP_011514487.1:p.Gly770Ser
XM_011516186.1:c.2608G>A	XP_011514488.1:p.Gly870Ser
XM_011516185.2:c.2308G>A	XP_011514487.1:p.Gly770Ser
XM_011516186.3:c.2608G>A	XP_011514488.1:p.Gly870Ser
XM_017012195.1:c.2458G>A	XP_016867684.1:p.Gly820Ser
XM_017012196.1:c.2431G>A	XP_016867685.1:p.Gly811Ser
NM_000238.4:c.2608G>A MANE Select	NP_000229.1:p.Gly870Ser
NM_172057.3:c.1588G>A	NP_742054.1:p.Gly530Ser