Canonical Allele Identifier: CA2685607947

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958252-GGGCGGAGAGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958255_150958265del , CM000669.2:g.150958255_150958265del	GRCh38
NC_000007.13:g.150655343_150655353del , CM000669.1:g.150655343_150655353del	GRCh37
NC_000007.12:g.150286276_150286286del	NCBI36
NG_008916.1:g.24664_24674del , LRG_288:g.24664_24674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1545_1555del
ENST00000262186.10:c.712_722del MANE Select	ENSP00000262186.5:p.Gly238ProfsTer?
ENST00000262186.9:c.712_722del	ENSP00000262186.5:p.Gly238ProfsTer?
ENST00000430723.4:c.364_374del	ENSP00000387657.4:p.Gly122ProfsTer?
ENST00000532957.5:n.935_945del
NM_000238.3:c.712_722del , LRG_288t1:c.712_722del	NP_000229.1:p.Gly238ProfsTer?
NM_172056.2:c.712_722del , LRG_288t2:c.712_722del	NP_742053.1:p.Gly238ProfsTer?
XM_011516185.1:c.412_422del	XP_011514487.1:p.Gly138ProfsTer?
XM_011516186.1:c.712_722del	XP_011514488.1:p.Gly238ProfsTer?
XM_011516185.2:c.412_422del	XP_011514487.1:p.Gly138ProfsTer?
XM_011516186.3:c.712_722del	XP_011514488.1:p.Gly238ProfsTer?
XM_017012195.1:c.562_572del	XP_016867684.1:p.Gly188ProfsTer?
XM_017012196.1:c.535_545del	XP_016867685.1:p.Gly179ProfsTer?
NM_000238.4:c.712_722del MANE Select	NP_000229.1:p.Gly238ProfsTer?