Canonical Allele Identifier: CA369853613

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773428
• ClinVar RCV Id: RCV003592255
• MyVariant Identifiers: chr7:g.150645535T>C (hg19) ; chr7:g.150948447T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948447T>C , CM000669.2:g.150948447T>C	GRCh38
NC_000007.13:g.150645535T>C , CM000669.1:g.150645535T>C	GRCh37
NC_000007.12:g.150276468T>C	NCBI36
NG_008916.1:g.34480A>G , LRG_288:g.34480A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3522A>G
ENST00000262186.10:c.2689A>G MANE Select	ENSP00000262186.5:p.Lys897Glu
ENST00000330883.9:c.1669A>G	ENSP00000328531.4:p.Lys557Glu
ENST00000262186.9:c.2689A>G	ENSP00000262186.5:p.Lys897Glu
ENST00000330883.8:c.1669A>G	ENSP00000328531.4:p.Lys557Glu
NM_000238.3:c.2689A>G , LRG_288t1:c.2689A>G	NP_000229.1:p.Lys897Glu
NM_172057.2:c.1669A>G , LRG_288t3:c.1669A>G	NP_742054.1:p.Lys557Glu
XM_011516185.1:c.2389A>G	XP_011514487.1:p.Lys797Glu
XM_011516186.1:c.2689A>G	XP_011514488.1:p.Lys897Glu
XM_011516185.2:c.2389A>G	XP_011514487.1:p.Lys797Glu
XM_011516186.3:c.2689A>G	XP_011514488.1:p.Lys897Glu
XM_017012195.1:c.2539A>G	XP_016867684.1:p.Lys847Glu
XM_017012196.1:c.2512A>G	XP_016867685.1:p.Lys838Glu
NM_000238.4:c.2689A>G MANE Select	NP_000229.1:p.Lys897Glu
NM_172057.3:c.1669A>G	NP_742054.1:p.Lys557Glu