Canonical Allele Identifier: CA369863795

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 934591
• ClinVar RCV Id: RCV001203008
• dbSNP Id: rs1801500008
• MyVariant Identifiers: chr7:g.150656759A>G (hg19) ; chr7:g.150959671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959671A>G , CM000669.2:g.150959671A>G	GRCh38
NC_000007.13:g.150656759A>G , CM000669.1:g.150656759A>G	GRCh37
NC_000007.12:g.150287692A>G	NCBI36
NG_008916.1:g.23256T>C , LRG_288:g.23256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1206T>C
ENST00000262186.10:c.373T>C MANE Select	ENSP00000262186.5:p.Phe125Leu
ENST00000262186.9:c.373T>C	ENSP00000262186.5:p.Phe125Leu
ENST00000430723.4:c.196T>C	ENSP00000387657.4:p.Phe66Leu
ENST00000532957.5:n.596T>C
NM_000238.3:c.373T>C , LRG_288t1:c.373T>C	NP_000229.1:p.Phe125Leu
NM_172056.2:c.373T>C , LRG_288t2:c.373T>C	NP_742053.1:p.Phe125Leu
XM_011516185.1:c.73T>C	XP_011514487.1:p.Phe25Leu
XM_011516186.1:c.373T>C	XP_011514488.1:p.Phe125Leu
XM_011516185.2:c.73T>C	XP_011514487.1:p.Phe25Leu
XM_011516186.3:c.373T>C	XP_011514488.1:p.Phe125Leu
XM_017012195.1:c.223T>C	XP_016867684.1:p.Phe75Leu
XM_017012196.1:c.196T>C	XP_016867685.1:p.Phe66Leu
NM_000238.4:c.373T>C MANE Select	NP_000229.1:p.Phe125Leu