Canonical Allele Identifier: CA2685602678

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948430-C-CCCCCCCCCCCCCCCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948430_150948431insCCCCCCCCCCCCCCCTT , CM000669.2:g.150948430_150948431insCCCCCCCCCCCCCCCTT	GRCh38
NC_000007.13:g.150645518_150645519insCCCCCCCCCCCCCCCTT , CM000669.1:g.150645518_150645519insCCCCCCCCCCCCCCCTT	GRCh37
NC_000007.12:g.150276451_150276452insCCCCCCCCCCCCCCCTT	NCBI36
NG_008916.1:g.34496_34497insAAGGGGGGGGGGGGGGG , LRG_288:g.34496_34497insAAGGGGGGGGGGGGGGG

Transcript Alleles

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