Canonical Allele Identifier: CA2685602414

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948376-ACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948381_150948421del , CM000669.2:g.150948381_150948421del	GRCh38
NC_000007.13:g.150645469_150645509del , CM000669.1:g.150645469_150645509del	GRCh37
NC_000007.12:g.150276402_150276442del	NCBI36
NG_008916.1:g.34510_34550del , LRG_288:g.34510_34550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+27_3525+67del
ENST00000262186.10:c.2692+27_2692+67del MANE Select	ENSP00000262186.5:n.2692+27_2692+67del
ENST00000330883.9:c.1672+27_1672+67del	ENSP00000328531.4:n.1672+27_1672+67del
ENST00000262186.9:c.2692+27_2692+67del	ENSP00000262186.5:n.2692+27_2692+67del
ENST00000330883.8:c.1672+27_1672+67del	ENSP00000328531.4:n.1672+27_1672+67del
NM_000238.3:c.2692+27_2692+67del , LRG_288t1:c.2692+27_2692+67del	NP_000229.1:n.2692+27_2692+67del
NM_172057.2:c.1672+27_1672+67del , LRG_288t3:c.1672+27_1672+67del	NP_742054.1:n.1672+27_1672+67del
XM_011516185.1:c.2392+27_2392+67del	XP_011514487.1:n.2392+27_2392+67del
XM_011516186.1:c.2692+27_2692+67del	XP_011514488.1:n.2692+27_2692+67del
XM_011516185.2:c.2392+27_2392+67del	XP_011514487.1:n.2392+27_2392+67del
XM_011516186.3:c.2692+27_2692+67del	XP_011514488.1:n.2692+27_2692+67del
XM_017012195.1:c.2542+27_2542+67del	XP_016867684.1:n.2542+27_2542+67del
XM_017012196.1:c.2515+27_2515+67del	XP_016867685.1:n.2515+27_2515+67del
NM_000238.4:c.2692+27_2692+67del MANE Select	NP_000229.1:n.2692+27_2692+67del
NM_172057.3:c.1672+27_1672+67del	NP_742054.1:n.1672+27_1672+67del