Canonical Allele Identifier: CA16612307

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 405345
• ClinVar RCV Id: RCV000457192
• dbSNP Id: rs1554425527
• MyVariant Identifiers: chr7:g.150648154dupT (hg19) ; chr7:g.150648153_150648154insT (hg19) ; chr7:g.150951066dupT (hg38) ; chr7:g.150951065_150951066insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951066dup , CM000669.2:g.150951066dup	GRCh38
NC_000007.13:g.150648154dup , CM000669.1:g.150648154dup	GRCh37
NC_000007.12:g.150279087dup	NCBI36
NG_008916.1:g.31861dup , LRG_288:g.31861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1298dup
ENST00000683359.1:n.124dup
ENST00000684241.1:n.2833dup
ENST00000262186.10:c.2000dup MANE Select	ENSP00000262186.5:p.Tyr667Ter
ENST00000330883.9:c.980dup	ENSP00000328531.4:p.Tyr327Ter
ENST00000262186.9:c.2000dup	ENSP00000262186.5:p.Tyr667Ter
ENST00000330883.8:c.980dup	ENSP00000328531.4:p.Tyr327Ter
ENST00000430723.4:c.1652dup	ENSP00000387657.4:p.Tyr551Ter
ENST00000461280.1:n.1287dup
ENST00000473610.5:n.1632dup
ENST00000532957.5:n.2223dup
NM_000238.3:c.2000dup , LRG_288t1:c.2000dup	NP_000229.1:p.Tyr667Ter
NM_001204798.1:c.980dup	NP_001191727.1:p.Tyr327Ter
NM_172056.2:c.2000dup , LRG_288t2:c.2000dup	NP_742053.1:p.Tyr667Ter
NM_172057.2:c.980dup , LRG_288t3:c.980dup	NP_742054.1:p.Tyr327Ter
XM_011516185.1:c.1700dup	XP_011514487.1:p.Tyr567Ter
XM_011516186.1:c.2000dup	XP_011514488.1:p.Tyr667Ter
XM_011516185.2:c.1700dup	XP_011514487.1:p.Tyr567Ter
XM_011516186.3:c.2000dup	XP_011514488.1:p.Tyr667Ter
XM_017012195.1:c.1850dup	XP_016867684.1:p.Tyr617Ter
XM_017012196.1:c.1823dup	XP_016867685.1:p.Tyr608Ter
NM_000238.4:c.2000dup MANE Select	NP_000229.1:p.Tyr667Ter
NM_001204798.2:c.980dup	NP_001191727.1:p.Tyr327Ter
NM_172057.3:c.980dup	NP_742054.1:p.Tyr327Ter