Canonical Allele Identifier: CA4566417

Gene: KCNH2

Linked Data

• dbSNP Id: rs781127314
• ExAC: 7:150644660 C / CGGT
• gnomAD v2: 7-150644660-C-CGGT
• gnomAD v3: 7-150947572-C-CGGT
• gnomAD v4: 7-150947572-C-CGGT
• MyVariant Identifiers: chr7:g.150644660_150644661insGGT (hg19) ; chr7:g.150947572_150947573insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947573_150947575dup , CM000669.2:g.150947573_150947575dup	GRCh38
NC_000007.13:g.150644661_150644663dup , CM000669.1:g.150644661_150644663dup	GRCh37
NC_000007.12:g.150275594_150275596dup	NCBI36
NG_008916.1:g.35352_35354dup , LRG_288:g.35352_35354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3798+31_3798+33dup
ENST00000262186.10:c.2965+31_2965+33dup MANE Select	ENSP00000262186.5:n.2965+31_2965+33dup
ENST00000330883.9:c.1945+31_1945+33dup	ENSP00000328531.4:n.1945+31_1945+33dup
ENST00000262186.9:c.2965+31_2965+33dup	ENSP00000262186.5:n.2965+31_2965+33dup
ENST00000330883.8:c.1945+31_1945+33dup	ENSP00000328531.4:n.1945+31_1945+33dup
NM_000238.3:c.2965+31_2965+33dup , LRG_288t1:c.2965+31_2965+33dup	NP_000229.1:n.2965+31_2965+33dup
NM_172057.2:c.1945+31_1945+33dup , LRG_288t3:c.1945+31_1945+33dup	NP_742054.1:n.1945+31_1945+33dup
XM_011516185.1:c.2665+31_2665+33dup	XP_011514487.1:n.2665+31_2665+33dup
XM_011516186.1:c.*45+31_*45+33dup	XP_011514488.1:n.*45+31_*45+33dup
XM_011516185.2:c.2665+31_2665+33dup	XP_011514487.1:n.2665+31_2665+33dup
XM_011516186.3:c.*45+31_*45+33dup	XP_011514488.1:n.*45+31_*45+33dup
XM_017012195.1:c.2815+31_2815+33dup	XP_016867684.1:n.2815+31_2815+33dup
XM_017012196.1:c.2788+31_2788+33dup	XP_016867685.1:n.2788+31_2788+33dup
NM_000238.4:c.2965+31_2965+33dup MANE Select	NP_000229.1:n.2965+31_2965+33dup
NM_172057.3:c.1945+31_1945+33dup	NP_742054.1:n.1945+31_1945+33dup