Canonical Allele Identifier: CA4566422

Gene: KCNH2

Linked Data

• dbSNP Id: rs774896775
• ExAC: 7:150645520 C / CCCCCGCCTCACCCTTG
• gnomAD v2: 7-150645520-C-CCCCCGCCTCACCCTTG
• gnomAD v3: 7-150948432-C-CCCCCGCCTCACCCTTG
• gnomAD v4: 7-150948432-C-CCCCCGCCTCACCCTTG
• MyVariant Identifiers: chr7:g.150645520_150645521insCCCCGCCTCACCCTTG (hg19) ; chr7:g.150948432_150948433insCCCCGCCTCACCCTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948433_150948448dup , CM000669.2:g.150948433_150948448dup	GRCh38
NC_000007.13:g.150645521_150645536dup , CM000669.1:g.150645521_150645536dup	GRCh37
NC_000007.12:g.150276454_150276469dup	NCBI36
NG_008916.1:g.34479_34494dup , LRG_288:g.34479_34494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3521_3525+11dup
ENST00000262186.10:c.2688_2692+11dup
ENST00000330883.9:c.1668_1672+11dup
ENST00000262186.9:c.2688_2692+11dup
ENST00000330883.8:c.1668_1672+11dup
NM_000238.3:c.2688_2692+11dup , LRG_288t1:c.2688_2692+11dup
NM_172057.2:c.1668_1672+11dup , LRG_288t3:c.1668_1672+11dup
XM_011516185.1:c.2388_2392+11dup
XM_011516186.1:c.2688_2692+11dup
XM_011516185.2:c.2388_2392+11dup
XM_011516186.3:c.2688_2692+11dup
XM_017012195.1:c.2538_2542+11dup
XM_017012196.1:c.2511_2515+11dup
NM_000238.4:c.2688_2692+11dup
NM_172057.3:c.1668_1672+11dup