Canonical Allele Identifier: CA835221870

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1405076
• ClinVar RCV Id: RCV001899164
• dbSNP Id: rs1360166698
• MyVariant Identifiers: chr7:g.150644682_150644683insCCT (hg19) ; chr7:g.150947594_150947595insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947594_150947595insCCT , CM000669.2:g.150947594_150947595insCCT	GRCh38
NC_000007.13:g.150644682_150644683insCCT , CM000669.1:g.150644682_150644683insCCT	GRCh37
NC_000007.12:g.150275615_150275616insCCT	NCBI36
NG_008916.1:g.35332_35333insAGG , LRG_288:g.35332_35333insAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3798+11_3798+12insAGG
ENST00000262186.10:c.2965+11_2965+12insAGG MANE Select	ENSP00000262186.5:n.2965+11_2965+12insAGG
ENST00000330883.9:c.1945+11_1945+12insAGG	ENSP00000328531.4:n.1945+11_1945+12insAGG
ENST00000262186.9:c.2965+11_2965+12insAGG	ENSP00000262186.5:n.2965+11_2965+12insAGG
ENST00000330883.8:c.1945+11_1945+12insAGG	ENSP00000328531.4:n.1945+11_1945+12insAGG
NM_000238.3:c.2965+11_2965+12insAGG , LRG_288t1:c.2965+11_2965+12insAGG	NP_000229.1:n.2965+11_2965+12insAGG
NM_172057.2:c.1945+11_1945+12insAGG , LRG_288t3:c.1945+11_1945+12insAGG	NP_742054.1:n.1945+11_1945+12insAGG
XM_011516185.1:c.2665+11_2665+12insAGG	XP_011514487.1:n.2665+11_2665+12insAGG
XM_011516186.1:c.*45+11_*45+12insAGG	XP_011514488.1:n.*45+11_*45+12insAGG
XM_011516185.2:c.2665+11_2665+12insAGG	XP_011514487.1:n.2665+11_2665+12insAGG
XM_011516186.3:c.*45+11_*45+12insAGG	XP_011514488.1:n.*45+11_*45+12insAGG
XM_017012195.1:c.2815+11_2815+12insAGG	XP_016867684.1:n.2815+11_2815+12insAGG
XM_017012196.1:c.2788+11_2788+12insAGG	XP_016867685.1:n.2788+11_2788+12insAGG
NM_000238.4:c.2965+11_2965+12insAGG MANE Select	NP_000229.1:n.2965+11_2965+12insAGG
NM_172057.3:c.1945+11_1945+12insAGG	NP_742054.1:n.1945+11_1945+12insAGG