Canonical Allele Identifier: CA1108704967

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801000848
• gnomAD v3: 7-150948430-C-CCCCCCCCCCCCCCCCCCT
• gnomAD v4: 7-150948430-C-CCCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948430_150948431insCCCCCCCCCCCCCCCCCT , CM000669.2:g.150948430_150948431insCCCCCCCCCCCCCCCCCT	GRCh38
NC_000007.13:g.150645518_150645519insCCCCCCCCCCCCCCCCCT , CM000669.1:g.150645518_150645519insCCCCCCCCCCCCCCCCCT	GRCh37
NC_000007.12:g.150276451_150276452insCCCCCCCCCCCCCCCCCT	NCBI36
NG_008916.1:g.34496_34497insAGGGGGGGGGGGGGGGGG , LRG_288:g.34496_34497insAGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+13_3525+14insAGGGGGGGGGGGGGGGGG
ENST00000262186.10:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG MANE Select	ENSP00000262186.5:n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG
ENST00000330883.9:c.1672+13_1672+14insAGGGGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+13_1672+14insAGGGGGGGGGGGGGGGGG
ENST00000262186.9:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG	ENSP00000262186.5:n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG
ENST00000330883.8:c.1672+13_1672+14insAGGGGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+13_1672+14insAGGGGGGGGGGGGGGGGG
NM_000238.3:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG , LRG_288t1:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG	NP_000229.1:n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG
NM_172057.2:c.1672+13_1672+14insAGGGGGGGGGGGGGGGGG , LRG_288t3:c.1672+13_1672+14insAGGGGGGGGGGGGGGGGG	NP_742054.1:n.1672+13_1672+14insAGGGGGGGGGGGGGGGGG
XM_011516185.1:c.2392+13_2392+14insAGGGGGGGGGGGGGGGGG	XP_011514487.1:n.2392+13_2392+14insAGGGGGGGGGGGGGGGGG
XM_011516186.1:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG	XP_011514488.1:n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG
XM_011516185.2:c.2392+13_2392+14insAGGGGGGGGGGGGGGGGG	XP_011514487.1:n.2392+13_2392+14insAGGGGGGGGGGGGGGGGG
XM_011516186.3:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG	XP_011514488.1:n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG
XM_017012195.1:c.2542+13_2542+14insAGGGGGGGGGGGGGGGGG	XP_016867684.1:n.2542+13_2542+14insAGGGGGGGGGGGGGGGGG
XM_017012196.1:c.2515+13_2515+14insAGGGGGGGGGGGGGGGGG	XP_016867685.1:n.2515+13_2515+14insAGGGGGGGGGGGGGGGGG
NM_000238.4:c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG MANE Select	NP_000229.1:n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG
NM_172057.3:c.1672+13_1672+14insAGGGGGGGGGGGGGGGGG	NP_742054.1:n.1672+13_1672+14insAGGGGGGGGGGGGGGGGG