Canonical Allele Identifier: CA658797040

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519234
• ClinVar RCV Id: RCV002531769
• dbSNP Id: rs1554424849
• MyVariant Identifiers: chr7:g.150646085_150646094del (hg19) ; chr7:g.150948997_150949006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949002_150949011del , CM000669.2:g.150949002_150949011del	GRCh38
NC_000007.13:g.150646090_150646099del , CM000669.1:g.150646090_150646099del	GRCh37
NC_000007.12:g.150277023_150277032del	NCBI36
NG_008916.1:g.33921_33930del , LRG_288:g.33921_33930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3275_3284del
ENST00000262186.10:c.2442_2451del MANE Select	ENSP00000262186.5:p.Arg814SerfsTer?
ENST00000330883.9:c.1422_1431del	ENSP00000328531.4:p.Arg474SerfsTer?
ENST00000262186.9:c.2442_2451del	ENSP00000262186.5:p.Arg814SerfsTer?
ENST00000330883.8:c.1422_1431del	ENSP00000328531.4:p.Arg474SerfsTer?
NM_000238.3:c.2442_2451del , LRG_288t1:c.2442_2451del	NP_000229.1:p.Arg814SerfsTer?
NM_172057.2:c.1422_1431del , LRG_288t3:c.1422_1431del	NP_742054.1:p.Arg474SerfsTer?
XM_011516185.1:c.2142_2151del	XP_011514487.1:p.Arg714SerfsTer?
XM_011516186.1:c.2442_2451del	XP_011514488.1:p.Arg814SerfsTer?
XM_011516185.2:c.2142_2151del	XP_011514487.1:p.Arg714SerfsTer?
XM_011516186.3:c.2442_2451del	XP_011514488.1:p.Arg814SerfsTer?
XM_017012195.1:c.2292_2301del	XP_016867684.1:p.Arg764SerfsTer?
XM_017012196.1:c.2265_2274del	XP_016867685.1:p.Arg755SerfsTer?
NM_000238.4:c.2442_2451del MANE Select	NP_000229.1:p.Arg814SerfsTer?
NM_172057.3:c.1422_1431del	NP_742054.1:p.Arg474SerfsTer?