Canonical Allele Identifier: CA005984

Gene: KCNH2

Linked Data

• dbSNP Id: rs794728442
• gnomAD v3: 7-150951477-ATCT-A
• gnomAD v4: 7-150951477-ATCT-A
• MyVariant Identifiers: chr7:g.150648566_150648568del (hg19) ; chr7:g.150951478_150951480del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951481_150951483del , CM000669.2:g.150951481_150951483del	GRCh38
NC_000007.13:g.150648569_150648571del , CM000669.1:g.150648569_150648571del	GRCh37
NC_000007.12:g.150279502_150279504del	NCBI36
NG_008916.1:g.31447_31449del , LRG_288:g.31447_31449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1211_1213del
ENST00000683359.1:n.37_39del
ENST00000684241.1:n.2746_2748del
ENST00000262186.10:c.1913_1915del MANE Select	ENSP00000262186.5:p.Lys638del
ENST00000330883.9:c.893_895del	ENSP00000328531.4:p.Lys298del
ENST00000262186.9:c.1913_1915del	ENSP00000262186.5:p.Lys638del
ENST00000330883.8:c.893_895del	ENSP00000328531.4:p.Lys298del
ENST00000430723.4:c.1565_1567del	ENSP00000387657.4:p.Lys522del
ENST00000461280.1:n.1200_1202del
ENST00000473610.5:n.1218_1220del
ENST00000532957.5:n.2136_2138del
NM_000238.3:c.1913_1915del , LRG_288t1:c.1913_1915del	NP_000229.1:p.Lys638del
NM_001204798.1:c.893_895del	NP_001191727.1:p.Lys298del
NM_172056.2:c.1913_1915del , LRG_288t2:c.1913_1915del	NP_742053.1:p.Lys638del
NM_172057.2:c.893_895del , LRG_288t3:c.893_895del	NP_742054.1:p.Lys298del
XM_011516185.1:c.1613_1615del	XP_011514487.1:p.Lys538del
XM_011516186.1:c.1913_1915del	XP_011514488.1:p.Lys638del
XM_011516185.2:c.1613_1615del	XP_011514487.1:p.Lys538del
XM_011516186.3:c.1913_1915del	XP_011514488.1:p.Lys638del
XM_017012195.1:c.1763_1765del	XP_016867684.1:p.Lys588del
XM_017012196.1:c.1736_1738del	XP_016867685.1:p.Lys579del
NM_000238.4:c.1913_1915del MANE Select	NP_000229.1:p.Lys638del
NM_001204798.2:c.893_895del	NP_001191727.1:p.Lys298del
NM_172057.3:c.893_895del	NP_742054.1:p.Lys298del