Canonical Allele Identifier: CA1108704866

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800994933
• gnomAD v3: 7-150948329-AG-A
• gnomAD v4: 7-150948329-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948331del , CM000669.2:g.150948331del	GRCh38
NC_000007.13:g.150645419del , CM000669.1:g.150645419del	GRCh37
NC_000007.12:g.150276352del	NCBI36
NG_008916.1:g.34597del , LRG_288:g.34597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+114del
ENST00000262186.10:c.2692+114del MANE Select	ENSP00000262186.5:n.2692+114del
ENST00000330883.9:c.1672+114del	ENSP00000328531.4:n.1672+114del
ENST00000262186.9:c.2692+114del	ENSP00000262186.5:n.2692+114del
ENST00000330883.8:c.1672+114del	ENSP00000328531.4:n.1672+114del
NM_000238.3:c.2692+114del , LRG_288t1:c.2692+114del	NP_000229.1:n.2692+114del
NM_172057.2:c.1672+114del , LRG_288t3:c.1672+114del	NP_742054.1:n.1672+114del
XM_011516185.1:c.2392+114del	XP_011514487.1:n.2392+114del
XM_011516186.1:c.2692+114del	XP_011514488.1:n.2692+114del
XM_011516185.2:c.2392+114del	XP_011514487.1:n.2392+114del
XM_011516186.3:c.2692+114del	XP_011514488.1:n.2692+114del
XM_017012195.1:c.2542+114del	XP_016867684.1:n.2542+114del
XM_017012196.1:c.2515+114del	XP_016867685.1:n.2515+114del
NM_000238.4:c.2692+114del MANE Select	NP_000229.1:n.2692+114del
NM_172057.3:c.1672+114del	NP_742054.1:n.1672+114del