Canonical Allele Identifier: CA658797049

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 524038
• ClinVar RCV Id: RCV000627533 ; RCV001381540
• dbSNP Id: rs1554427931
• MyVariant Identifiers: chr7:g.150655512_150655519dup (hg19) ; chr7:g.150958424_150958431dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958428_150958435dup , CM000669.2:g.150958428_150958435dup	GRCh38
NC_000007.13:g.150655516_150655523dup , CM000669.1:g.150655516_150655523dup	GRCh37
NC_000007.12:g.150286449_150286456dup	NCBI36
NG_008916.1:g.24496_24503dup , LRG_288:g.24496_24503dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1377_1384dup
ENST00000262186.10:c.544_551dup MANE Select	ENSP00000262186.5:p.Ala185ArgfsTer19
ENST00000262186.9:c.544_551dup	ENSP00000262186.5:p.Ala185ArgfsTer19
ENST00000430723.4:c.235-39_235-32dup	ENSP00000387657.4:n.235-39_235-32dup
ENST00000532957.5:n.767_774dup
NM_000238.3:c.544_551dup , LRG_288t1:c.544_551dup	NP_000229.1:p.Ala185ArgfsTer19
NM_172056.2:c.544_551dup , LRG_288t2:c.544_551dup	NP_742053.1:p.Ala185ArgfsTer19
XM_011516185.1:c.244_251dup	XP_011514487.1:p.Ala85ArgfsTer19
XM_011516186.1:c.544_551dup	XP_011514488.1:p.Ala185ArgfsTer19
XM_011516185.2:c.244_251dup	XP_011514487.1:p.Ala85ArgfsTer19
XM_011516186.3:c.544_551dup	XP_011514488.1:p.Ala185ArgfsTer19
XM_017012195.1:c.394_401dup	XP_016867684.1:p.Ala135ArgfsTer19
XM_017012196.1:c.367_374dup	XP_016867685.1:p.Ala126ArgfsTer19
NM_000238.4:c.544_551dup MANE Select	NP_000229.1:p.Ala185ArgfsTer19