Canonical Allele Identifier: CA2685600560

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948590-C-CTGGTGGGGCAGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948590_150948591insTGGTGGGGCAGGAG , CM000669.2:g.150948590_150948591insTGGTGGGGCAGGAG	GRCh38
NC_000007.13:g.150645678_150645679insTGGTGGGGCAGGAG , CM000669.1:g.150645678_150645679insTGGTGGGGCAGGAG	GRCh37
NC_000007.12:g.150276611_150276612insTGGTGGGGCAGGAG	NCBI36
NG_008916.1:g.34336_34337insCTCCTGCCCCACCA , LRG_288:g.34336_34337insCTCCTGCCCCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-48_3426-47insCTCCTGCCCCACCA
ENST00000262186.10:c.2593-48_2593-47insCTCCTGCCCCACCA MANE Select	ENSP00000262186.5:n.2593-48_2593-47insCTCCTGCCCCACCA
ENST00000330883.9:c.1573-48_1573-47insCTCCTGCCCCACCA	ENSP00000328531.4:n.1573-48_1573-47insCTCCTGCCCCACCA
ENST00000262186.9:c.2593-48_2593-47insCTCCTGCCCCACCA	ENSP00000262186.5:n.2593-48_2593-47insCTCCTGCCCCACCA
ENST00000330883.8:c.1573-48_1573-47insCTCCTGCCCCACCA	ENSP00000328531.4:n.1573-48_1573-47insCTCCTGCCCCACCA
NM_000238.3:c.2593-48_2593-47insCTCCTGCCCCACCA , LRG_288t1:c.2593-48_2593-47insCTCCTGCCCCACCA	NP_000229.1:n.2593-48_2593-47insCTCCTGCCCCACCA
NM_172057.2:c.1573-48_1573-47insCTCCTGCCCCACCA , LRG_288t3:c.1573-48_1573-47insCTCCTGCCCCACCA	NP_742054.1:n.1573-48_1573-47insCTCCTGCCCCACCA
XM_011516185.1:c.2293-48_2293-47insCTCCTGCCCCACCA	XP_011514487.1:n.2293-48_2293-47insCTCCTGCCCCACCA
XM_011516186.1:c.2593-48_2593-47insCTCCTGCCCCACCA	XP_011514488.1:n.2593-48_2593-47insCTCCTGCCCCACCA
XM_011516185.2:c.2293-48_2293-47insCTCCTGCCCCACCA	XP_011514487.1:n.2293-48_2293-47insCTCCTGCCCCACCA
XM_011516186.3:c.2593-48_2593-47insCTCCTGCCCCACCA	XP_011514488.1:n.2593-48_2593-47insCTCCTGCCCCACCA
XM_017012195.1:c.2443-48_2443-47insCTCCTGCCCCACCA	XP_016867684.1:n.2443-48_2443-47insCTCCTGCCCCACCA
XM_017012196.1:c.2416-48_2416-47insCTCCTGCCCCACCA	XP_016867685.1:n.2416-48_2416-47insCTCCTGCCCCACCA
NM_000238.4:c.2593-48_2593-47insCTCCTGCCCCACCA MANE Select	NP_000229.1:n.2593-48_2593-47insCTCCTGCCCCACCA
NM_172057.3:c.1573-48_1573-47insCTCCTGCCCCACCA	NP_742054.1:n.1573-48_1573-47insCTCCTGCCCCACCA