Canonical Allele Identifier: CA1108705168

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801020774
• gnomAD v3: 7-150948763-CAG-C
• gnomAD v4: 7-150948763-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948767_150948768del , CM000669.2:g.150948767_150948768del	GRCh38
NC_000007.13:g.150645855_150645856del , CM000669.1:g.150645855_150645856del	GRCh37
NC_000007.12:g.150276788_150276789del	NCBI36
NG_008916.1:g.34162_34163del , LRG_288:g.34162_34163del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3425+91_3425+92del
ENST00000262186.10:c.2592+91_2592+92del MANE Select	ENSP00000262186.5:n.2592+91_2592+92del
ENST00000330883.9:c.1572+91_1572+92del	ENSP00000328531.4:n.1572+91_1572+92del
ENST00000262186.9:c.2592+91_2592+92del	ENSP00000262186.5:n.2592+91_2592+92del
ENST00000330883.8:c.1572+91_1572+92del	ENSP00000328531.4:n.1572+91_1572+92del
NM_000238.3:c.2592+91_2592+92del , LRG_288t1:c.2592+91_2592+92del	NP_000229.1:n.2592+91_2592+92del
NM_172057.2:c.1572+91_1572+92del , LRG_288t3:c.1572+91_1572+92del	NP_742054.1:n.1572+91_1572+92del
XM_011516185.1:c.2292+91_2292+92del	XP_011514487.1:n.2292+91_2292+92del
XM_011516186.1:c.2592+91_2592+92del	XP_011514488.1:n.2592+91_2592+92del
XM_011516185.2:c.2292+91_2292+92del	XP_011514487.1:n.2292+91_2292+92del
XM_011516186.3:c.2592+91_2592+92del	XP_011514488.1:n.2592+91_2592+92del
XM_017012195.1:c.2442+91_2442+92del	XP_016867684.1:n.2442+91_2442+92del
XM_017012196.1:c.2415+91_2415+92del	XP_016867685.1:n.2415+91_2415+92del
NM_000238.4:c.2592+91_2592+92del MANE Select	NP_000229.1:n.2592+91_2592+92del
NM_172057.3:c.1572+91_1572+92del	NP_742054.1:n.1572+91_1572+92del