Canonical Allele Identifier: CA2685603996

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950176-GCCACGACGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950177_150950186del , CM000669.2:g.150950177_150950186del	GRCh38
NC_000007.13:g.150647265_150647274del , CM000669.1:g.150647265_150647274del	GRCh37
NC_000007.12:g.150278198_150278207del	NCBI36
NG_008916.1:g.32741_32750del , LRG_288:g.32741_32750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1678_1687del
ENST00000684241.1:n.3213_3222del
ENST00000262186.10:c.2380_2389del MANE Select	ENSP00000262186.5:p.Val794ProfsTer13
ENST00000330883.9:c.1360_1369del	ENSP00000328531.4:p.Val454ProfsTer13
ENST00000262186.9:c.2380_2389del	ENSP00000262186.5:p.Val794ProfsTer13
ENST00000330883.8:c.1360_1369del	ENSP00000328531.4:p.Val454ProfsTer13
ENST00000430723.4:c.2032_2041del	ENSP00000387657.4:p.Val678ProfsTer26
ENST00000461280.1:n.1667_1676del
ENST00000473610.5:n.2012_2021del
ENST00000532957.5:n.2603_2612del
NM_000238.3:c.2380_2389del , LRG_288t1:c.2380_2389del	NP_000229.1:p.Val794ProfsTer13
NM_001204798.1:c.1360_1369del	NP_001191727.1:p.Val454ProfsTer26
NM_172056.2:c.2380_2389del , LRG_288t2:c.2380_2389del	NP_742053.1:p.Val794ProfsTer26
NM_172057.2:c.1360_1369del , LRG_288t3:c.1360_1369del	NP_742054.1:p.Val454ProfsTer13
XM_011516185.1:c.2080_2089del	XP_011514487.1:p.Val694ProfsTer13
XM_011516186.1:c.2380_2389del	XP_011514488.1:p.Val794ProfsTer13
XM_011516185.2:c.2080_2089del	XP_011514487.1:p.Val694ProfsTer13
XM_011516186.3:c.2380_2389del	XP_011514488.1:p.Val794ProfsTer13
XM_017012195.1:c.2230_2239del	XP_016867684.1:p.Val744ProfsTer13
XM_017012196.1:c.2203_2212del	XP_016867685.1:p.Val735ProfsTer13
NM_000238.4:c.2380_2389del MANE Select	NP_000229.1:p.Val794ProfsTer13
NM_001204798.2:c.1360_1369del	NP_001191727.1:p.Val454ProfsTer26
NM_172057.3:c.1360_1369del	NP_742054.1:p.Val454ProfsTer13