Canonical Allele Identifier: CA2685602601

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948421-C-CCCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948421_150948422insCCCCCCCCCCCCCCCCCT , CM000669.2:g.150948421_150948422insCCCCCCCCCCCCCCCCCT	GRCh38
NC_000007.13:g.150645509_150645510insCCCCCCCCCCCCCCCCCT , CM000669.1:g.150645509_150645510insCCCCCCCCCCCCCCCCCT	GRCh37
NC_000007.12:g.150276442_150276443insCCCCCCCCCCCCCCCCCT	NCBI36
NG_008916.1:g.34505_34506insAGGGGGGGGGGGGGGGGG , LRG_288:g.34505_34506insAGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+22_3525+23insAGGGGGGGGGGGGGGGGG
ENST00000262186.10:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG MANE Select	ENSP00000262186.5:n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG
ENST00000330883.9:c.1672+22_1672+23insAGGGGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+22_1672+23insAGGGGGGGGGGGGGGGGG
ENST00000262186.9:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG	ENSP00000262186.5:n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG
ENST00000330883.8:c.1672+22_1672+23insAGGGGGGGGGGGGGGGGG	ENSP00000328531.4:n.1672+22_1672+23insAGGGGGGGGGGGGGGGGG
NM_000238.3:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG , LRG_288t1:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG	NP_000229.1:n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG
NM_172057.2:c.1672+22_1672+23insAGGGGGGGGGGGGGGGGG , LRG_288t3:c.1672+22_1672+23insAGGGGGGGGGGGGGGGGG	NP_742054.1:n.1672+22_1672+23insAGGGGGGGGGGGGGGGGG
XM_011516185.1:c.2392+22_2392+23insAGGGGGGGGGGGGGGGGG	XP_011514487.1:n.2392+22_2392+23insAGGGGGGGGGGGGGGGGG
XM_011516186.1:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG	XP_011514488.1:n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG
XM_011516185.2:c.2392+22_2392+23insAGGGGGGGGGGGGGGGGG	XP_011514487.1:n.2392+22_2392+23insAGGGGGGGGGGGGGGGGG
XM_011516186.3:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG	XP_011514488.1:n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG
XM_017012195.1:c.2542+22_2542+23insAGGGGGGGGGGGGGGGGG	XP_016867684.1:n.2542+22_2542+23insAGGGGGGGGGGGGGGGGG
XM_017012196.1:c.2515+22_2515+23insAGGGGGGGGGGGGGGGGG	XP_016867685.1:n.2515+22_2515+23insAGGGGGGGGGGGGGGGGG
NM_000238.4:c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG MANE Select	NP_000229.1:n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG
NM_172057.3:c.1672+22_1672+23insAGGGGGGGGGGGGGGGGG	NP_742054.1:n.1672+22_1672+23insAGGGGGGGGGGGGGGGGG