Canonical Allele Identifier: CA835223742

Gene: KCNH2

Linked Data

• dbSNP Id: rs1477808524
• gnomAD v3: 7-150948801-CA-C
• gnomAD v4: 7-150948801-CA-C
• MyVariant Identifiers: chr7:g.150645890del (hg19) ; chr7:g.150948802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948802del , CM000669.2:g.150948802del	GRCh38
NC_000007.13:g.150645890del , CM000669.1:g.150645890del	GRCh37
NC_000007.12:g.150276823del	NCBI36
NG_008916.1:g.34125del , LRG_288:g.34125del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3425+54del
ENST00000262186.10:c.2592+54del MANE Select	ENSP00000262186.5:n.2592+54del
ENST00000330883.9:c.1572+54del	ENSP00000328531.4:n.1572+54del
ENST00000262186.9:c.2592+54del	ENSP00000262186.5:n.2592+54del
ENST00000330883.8:c.1572+54del	ENSP00000328531.4:n.1572+54del
NM_000238.3:c.2592+54del , LRG_288t1:c.2592+54del	NP_000229.1:n.2592+54del
NM_172057.2:c.1572+54del , LRG_288t3:c.1572+54del	NP_742054.1:n.1572+54del
XM_011516185.1:c.2292+54del	XP_011514487.1:n.2292+54del
XM_011516186.1:c.2592+54del	XP_011514488.1:n.2592+54del
XM_011516185.2:c.2292+54del	XP_011514487.1:n.2292+54del
XM_011516186.3:c.2592+54del	XP_011514488.1:n.2592+54del
XM_017012195.1:c.2442+54del	XP_016867684.1:n.2442+54del
XM_017012196.1:c.2415+54del	XP_016867685.1:n.2415+54del
NM_000238.4:c.2592+54del MANE Select	NP_000229.1:n.2592+54del
NM_172057.3:c.1572+54del	NP_742054.1:n.1572+54del