Canonical Allele Identifier: CA1139660328

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 992792
• ClinVar RCV Id: RCV001281543

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947163_150948277del , CM000669.2:g.150947163_150948277del	GRCh38
NC_000007.13:g.150644251_150645365del , CM000669.1:g.150644251_150645365del	GRCh37
NC_000007.12:g.150275184_150276298del	NCBI36
NG_008916.1:g.34650_35764del , LRG_288:g.34650_35764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+167_3986-109del
ENST00000262186.10:c.2692+167_3153-109del
ENST00000330883.9:c.1672+167_2133-109del
ENST00000262186.9:c.2692+167_3153-109del
ENST00000330883.8:c.1672+167_2133-109del
NM_000238.3:c.2692+167_3153-109del , LRG_288t1:c.2692+167_3153-109del
NM_172057.2:c.1672+167_2133-109del , LRG_288t3:c.1672+167_2133-109del
XM_011516185.1:c.2392+167_2853-109del
XM_011516185.2:c.2392+167_2853-109del
XM_017012195.1:c.2542+167_3003-109del
XM_017012196.1:c.2515+167_2976-109del
NM_000238.4:c.2692+167_3153-109del
NM_172057.3:c.1672+167_2133-109del