Canonical Allele Identifier: CA2685607585

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958180-GCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958181_150958184del , CM000669.2:g.150958181_150958184del	GRCh38
NC_000007.13:g.150655269_150655272del , CM000669.1:g.150655269_150655272del	GRCh37
NC_000007.12:g.150286202_150286205del	NCBI36
NG_008916.1:g.24743_24746del , LRG_288:g.24743_24746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1624_1627del
ENST00000262186.10:c.791_794del MANE Select	ENSP00000262186.5:p.Ser264ThrfsTer?
ENST00000262186.9:c.791_794del	ENSP00000262186.5:p.Ser264ThrfsTer?
ENST00000430723.4:c.443_446del	ENSP00000387657.4:p.Ser148ThrfsTer?
ENST00000532957.5:n.1014_1017del
NM_000238.3:c.791_794del , LRG_288t1:c.791_794del	NP_000229.1:p.Ser264ThrfsTer?
NM_172056.2:c.791_794del , LRG_288t2:c.791_794del	NP_742053.1:p.Ser264ThrfsTer?
XM_011516185.1:c.491_494del	XP_011514487.1:p.Ser164ThrfsTer?
XM_011516186.1:c.791_794del	XP_011514488.1:p.Ser264ThrfsTer?
XM_011516185.2:c.491_494del	XP_011514487.1:p.Ser164ThrfsTer?
XM_011516186.3:c.791_794del	XP_011514488.1:p.Ser264ThrfsTer?
XM_017012195.1:c.641_644del	XP_016867684.1:p.Ser214ThrfsTer?
XM_017012196.1:c.614_617del	XP_016867685.1:p.Ser205ThrfsTer?
NM_000238.4:c.791_794del MANE Select	NP_000229.1:p.Ser264ThrfsTer?