Canonical Allele Identifier: CA2685605599

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957362-TGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957364_150957367del , CM000669.2:g.150957364_150957367del	GRCh38
NC_000007.13:g.150654452_150654455del , CM000669.1:g.150654452_150654455del	GRCh37
NC_000007.12:g.150285385_150285388del	NCBI36
NG_008916.1:g.25561_25564del , LRG_288:g.25561_25564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1886_1889del
ENST00000262186.10:c.1053_1056del MANE Select	ENSP00000262186.5:p.Thr353ValfsTer6
ENST00000262186.9:c.1053_1056del	ENSP00000262186.5:p.Thr353ValfsTer6
ENST00000430723.4:c.705_708del	ENSP00000387657.4:p.Thr237ValfsTer6
ENST00000532957.5:n.1276_1279del
NM_000238.3:c.1053_1056del , LRG_288t1:c.1053_1056del	NP_000229.1:p.Thr353ValfsTer6
NM_172056.2:c.1053_1056del , LRG_288t2:c.1053_1056del	NP_742053.1:p.Thr353ValfsTer6
XM_011516185.1:c.753_756del	XP_011514487.1:p.Thr253ValfsTer6
XM_011516186.1:c.1053_1056del	XP_011514488.1:p.Thr353ValfsTer6
XM_011516185.2:c.753_756del	XP_011514487.1:p.Thr253ValfsTer6
XM_011516186.3:c.1053_1056del	XP_011514488.1:p.Thr353ValfsTer6
XM_017012195.1:c.903_906del	XP_016867684.1:p.Thr303ValfsTer6
XM_017012196.1:c.876_879del	XP_016867685.1:p.Thr294ValfsTer6
NM_000238.4:c.1053_1056del MANE Select	NP_000229.1:p.Thr353ValfsTer6