Canonical Allele Identifier: CA2685600562

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948593-C-CCTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948593_150948594insCTGGT , CM000669.2:g.150948593_150948594insCTGGT	GRCh38
NC_000007.13:g.150645681_150645682insCTGGT , CM000669.1:g.150645681_150645682insCTGGT	GRCh37
NC_000007.12:g.150276614_150276615insCTGGT	NCBI36
NG_008916.1:g.34333_34334insACCAG , LRG_288:g.34333_34334insACCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-51_3426-50insACCAG
ENST00000262186.10:c.2593-51_2593-50insACCAG MANE Select	ENSP00000262186.5:n.2593-51_2593-50insACCAG
ENST00000330883.9:c.1573-51_1573-50insACCAG	ENSP00000328531.4:n.1573-51_1573-50insACCAG
ENST00000262186.9:c.2593-51_2593-50insACCAG	ENSP00000262186.5:n.2593-51_2593-50insACCAG
ENST00000330883.8:c.1573-51_1573-50insACCAG	ENSP00000328531.4:n.1573-51_1573-50insACCAG
NM_000238.3:c.2593-51_2593-50insACCAG , LRG_288t1:c.2593-51_2593-50insACCAG	NP_000229.1:n.2593-51_2593-50insACCAG
NM_172057.2:c.1573-51_1573-50insACCAG , LRG_288t3:c.1573-51_1573-50insACCAG	NP_742054.1:n.1573-51_1573-50insACCAG
XM_011516185.1:c.2293-51_2293-50insACCAG	XP_011514487.1:n.2293-51_2293-50insACCAG
XM_011516186.1:c.2593-51_2593-50insACCAG	XP_011514488.1:n.2593-51_2593-50insACCAG
XM_011516185.2:c.2293-51_2293-50insACCAG	XP_011514487.1:n.2293-51_2293-50insACCAG
XM_011516186.3:c.2593-51_2593-50insACCAG	XP_011514488.1:n.2593-51_2593-50insACCAG
XM_017012195.1:c.2443-51_2443-50insACCAG	XP_016867684.1:n.2443-51_2443-50insACCAG
XM_017012196.1:c.2416-51_2416-50insACCAG	XP_016867685.1:n.2416-51_2416-50insACCAG
NM_000238.4:c.2593-51_2593-50insACCAG MANE Select	NP_000229.1:n.2593-51_2593-50insACCAG
NM_172057.3:c.1573-51_1573-50insACCAG	NP_742054.1:n.1573-51_1573-50insACCAG