Canonical Allele Identifier: CA034378

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2914575
• ClinVar RCV Id: RCV003649060
• dbSNP Id: rs769165484
• ExAC: 7:150645484 GCCTCACCTTGTCCCCGCCCTCCCCCTT / G
• gnomAD v2: 7-150645484-GCCTCACCTTGTCCCCGCCCTCCCCCTT-G
• gnomAD v3: 7-150948396-GCCTCACCTTGTCCCCGCCCTCCCCCTT-G
• gnomAD v4: 7-150948396-GCCTCACCTTGTCCCCGCCCTCCCCCTT-G
• MyVariant Identifiers: chr7:g.150645485_150645511del (hg19) ; chr7:g.150948397_150948423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948401_150948427del , CM000669.2:g.150948401_150948427del	GRCh38
NC_000007.13:g.150645489_150645515del , CM000669.1:g.150645489_150645515del	GRCh37
NC_000007.12:g.150276422_150276448del	NCBI36
NG_008916.1:g.34504_34530del , LRG_288:g.34504_34530del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+21_3525+47del
ENST00000262186.10:c.2692+21_2692+47del MANE Select	ENSP00000262186.5:n.2692+21_2692+47del
ENST00000330883.9:c.1672+21_1672+47del	ENSP00000328531.4:n.1672+21_1672+47del
ENST00000262186.9:c.2692+21_2692+47del	ENSP00000262186.5:n.2692+21_2692+47del
ENST00000330883.8:c.1672+21_1672+47del	ENSP00000328531.4:n.1672+21_1672+47del
NM_000238.3:c.2692+21_2692+47del , LRG_288t1:c.2692+21_2692+47del	NP_000229.1:n.2692+21_2692+47del
NM_172057.2:c.1672+21_1672+47del , LRG_288t3:c.1672+21_1672+47del	NP_742054.1:n.1672+21_1672+47del
XM_011516185.1:c.2392+21_2392+47del	XP_011514487.1:n.2392+21_2392+47del
XM_011516186.1:c.2692+21_2692+47del	XP_011514488.1:n.2692+21_2692+47del
XM_011516185.2:c.2392+21_2392+47del	XP_011514487.1:n.2392+21_2392+47del
XM_011516186.3:c.2692+21_2692+47del	XP_011514488.1:n.2692+21_2692+47del
XM_017012195.1:c.2542+21_2542+47del	XP_016867684.1:n.2542+21_2542+47del
XM_017012196.1:c.2515+21_2515+47del	XP_016867685.1:n.2515+21_2515+47del
NM_000238.4:c.2692+21_2692+47del MANE Select	NP_000229.1:n.2692+21_2692+47del
NM_172057.3:c.1672+21_1672+47del	NP_742054.1:n.1672+21_1672+47del