Canonical Allele Identifier: CA369853653

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1343895
• ClinVar RCV Id: RCV001847440 ; RCV003647858
• dbSNP Id: rs774216337
• gnomAD v4: 7-150948461-C-A
• MyVariant Identifiers: chr7:g.150645549C>A (hg19) ; chr7:g.150948461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948461C>A , CM000669.2:g.150948461C>A	GRCh38
NC_000007.13:g.150645549C>A , CM000669.1:g.150645549C>A	GRCh37
NC_000007.12:g.150276482C>A	NCBI36
NG_008916.1:g.34466G>T , LRG_288:g.34466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3508G>T
ENST00000262186.10:c.2675G>T MANE Select	ENSP00000262186.5:p.Arg892Leu
ENST00000330883.9:c.1655G>T	ENSP00000328531.4:p.Arg552Leu
ENST00000262186.9:c.2675G>T	ENSP00000262186.5:p.Arg892Leu
ENST00000330883.8:c.1655G>T	ENSP00000328531.4:p.Arg552Leu
NM_000238.3:c.2675G>T , LRG_288t1:c.2675G>T	NP_000229.1:p.Arg892Leu
NM_172057.2:c.1655G>T , LRG_288t3:c.1655G>T	NP_742054.1:p.Arg552Leu
XM_011516185.1:c.2375G>T	XP_011514487.1:p.Arg792Leu
XM_011516186.1:c.2675G>T	XP_011514488.1:p.Arg892Leu
XM_011516185.2:c.2375G>T	XP_011514487.1:p.Arg792Leu
XM_011516186.3:c.2675G>T	XP_011514488.1:p.Arg892Leu
XM_017012195.1:c.2525G>T	XP_016867684.1:p.Arg842Leu
XM_017012196.1:c.2498G>T	XP_016867685.1:p.Arg833Leu
NM_000238.4:c.2675G>T MANE Select	NP_000229.1:p.Arg892Leu
NM_172057.3:c.1655G>T	NP_742054.1:p.Arg552Leu