Canonical Allele Identifier: CA658656010

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456876
• ClinVar RCV Id: RCV000544925
• dbSNP Id: rs1554427317
• MyVariant Identifiers: chr7:g.150654385_150654386del (hg19) ; chr7:g.150957297_150957298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957297_150957298del , CM000669.2:g.150957297_150957298del	GRCh38
NC_000007.13:g.150654385_150654386del , CM000669.1:g.150654385_150654386del	GRCh37
NC_000007.12:g.150285318_150285319del	NCBI36
NG_008916.1:g.25629_25630del , LRG_288:g.25629_25630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1954_1955del
ENST00000262186.10:c.1121_1122del MANE Select	ENSP00000262186.5:p.Val374AspfsTer13
ENST00000262186.9:c.1121_1122del	ENSP00000262186.5:p.Val374AspfsTer13
ENST00000430723.4:c.773_774del	ENSP00000387657.4:p.Val258AspfsTer13
ENST00000532957.5:n.1344_1345del
NM_000238.3:c.1121_1122del , LRG_288t1:c.1121_1122del	NP_000229.1:p.Val374AspfsTer13
NM_172056.2:c.1121_1122del , LRG_288t2:c.1121_1122del	NP_742053.1:p.Val374AspfsTer13
XM_011516185.1:c.821_822del	XP_011514487.1:p.Val274AspfsTer13
XM_011516186.1:c.1121_1122del	XP_011514488.1:p.Val374AspfsTer13
XM_011516185.2:c.821_822del	XP_011514487.1:p.Val274AspfsTer13
XM_011516186.3:c.1121_1122del	XP_011514488.1:p.Val374AspfsTer13
XM_017012195.1:c.971_972del	XP_016867684.1:p.Val324AspfsTer13
XM_017012196.1:c.944_945del	XP_016867685.1:p.Val315AspfsTer13
NM_000238.4:c.1121_1122del MANE Select	NP_000229.1:p.Val374AspfsTer13