Canonical Allele Identifier: CA2685601100

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947127-GGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947136_150947219del , CM000669.2:g.150947136_150947219del	GRCh38
NC_000007.13:g.150644224_150644307del , CM000669.1:g.150644224_150644307del	GRCh37
NC_000007.12:g.150275157_150275240del	NCBI36
NG_008916.1:g.35716_35799del , LRG_288:g.35716_35799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+117_3986-74del
ENST00000262186.10:c.3152+117_3153-74del MANE Select	ENSP00000262186.5:n.3152+117_3153-74del
ENST00000330883.9:c.2132+117_2133-74del	ENSP00000328531.4:n.2132+117_2133-74del
ENST00000262186.9:c.3152+117_3153-74del	ENSP00000262186.5:n.3152+117_3153-74del
ENST00000330883.8:c.2132+117_2133-74del	ENSP00000328531.4:n.2132+117_2133-74del
NM_000238.3:c.3152+117_3153-74del , LRG_288t1:c.3152+117_3153-74del	NP_000229.1:n.3152+117_3153-74del
NM_172057.2:c.2132+117_2133-74del , LRG_288t3:c.2132+117_2133-74del	NP_742054.1:n.2132+117_2133-74del
XM_011516185.1:c.2852+117_2853-74del	XP_011514487.1:n.2852+117_2853-74del
XM_011516185.2:c.2852+117_2853-74del	XP_011514487.1:n.2852+117_2853-74del
XM_017012195.1:c.3002+117_3003-74del	XP_016867684.1:n.3002+117_3003-74del
XM_017012196.1:c.2975+117_2976-74del	XP_016867685.1:n.2975+117_2976-74del
NM_000238.4:c.3152+117_3153-74del MANE Select	NP_000229.1:n.3152+117_3153-74del
NM_172057.3:c.2132+117_2133-74del	NP_742054.1:n.2132+117_2133-74del