Canonical Allele Identifier: CA835204407

Gene: KCNH2

Linked Data

• dbSNP Id: rs1219936499
• gnomAD v3: 7-150958816-ACT-A
• gnomAD v4: 7-150958816-ACT-A
• MyVariant Identifiers: chr7:g.150655905_150655906del (hg19) ; chr7:g.150958817_150958818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958821_150958822del , CM000669.2:g.150958821_150958822del	GRCh38
NC_000007.13:g.150655909_150655910del , CM000669.1:g.150655909_150655910del	GRCh37
NC_000007.12:g.150286842_150286843del	NCBI36
NG_008916.1:g.24109_24110del , LRG_288:g.24109_24110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-316_1306-315del
ENST00000262186.10:c.473-316_473-315del MANE Select	ENSP00000262186.5:n.473-316_473-315del
ENST00000262186.9:c.473-316_473-315del	ENSP00000262186.5:n.473-316_473-315del
ENST00000430723.4:c.235-426_235-425del	ENSP00000387657.4:n.235-426_235-425del
ENST00000532957.5:n.696-316_696-315del
NM_000238.3:c.473-316_473-315del , LRG_288t1:c.473-316_473-315del	NP_000229.1:n.473-316_473-315del
NM_172056.2:c.473-316_473-315del , LRG_288t2:c.473-316_473-315del	NP_742053.1:n.473-316_473-315del
XM_011516185.1:c.173-316_173-315del	XP_011514487.1:n.173-316_173-315del
XM_011516186.1:c.473-316_473-315del	XP_011514488.1:n.473-316_473-315del
XM_011516185.2:c.173-316_173-315del	XP_011514487.1:n.173-316_173-315del
XM_011516186.3:c.473-316_473-315del	XP_011514488.1:n.473-316_473-315del
XM_017012195.1:c.323-316_323-315del	XP_016867684.1:n.323-316_323-315del
XM_017012196.1:c.296-316_296-315del	XP_016867685.1:n.296-316_296-315del
NM_000238.4:c.473-316_473-315del MANE Select	NP_000229.1:n.473-316_473-315del