Canonical Allele Identifier: CA578701664

Gene: KCNH2

Linked Data

• dbSNP Id: rs1426814336
• gnomAD v2: 7-150645507-CCCTTCCT-C
• gnomAD v3: 7-150948419-CCCTTCCT-C
• gnomAD v4: 7-150948419-CCCTTCCT-C
• MyVariant Identifiers: chr7:g.150645508_150645514del (hg19) ; chr7:g.150948420_150948426del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948422_150948428del , CM000669.2:g.150948422_150948428del	GRCh38
NC_000007.13:g.150645510_150645516del , CM000669.1:g.150645510_150645516del	GRCh37
NC_000007.12:g.150276443_150276449del	NCBI36
NG_008916.1:g.34501_34507del , LRG_288:g.34501_34507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+18_3525+24del
ENST00000262186.10:c.2692+18_2692+24del MANE Select	ENSP00000262186.5:n.2692+18_2692+24del
ENST00000330883.9:c.1672+18_1672+24del	ENSP00000328531.4:n.1672+18_1672+24del
ENST00000262186.9:c.2692+18_2692+24del	ENSP00000262186.5:n.2692+18_2692+24del
ENST00000330883.8:c.1672+18_1672+24del	ENSP00000328531.4:n.1672+18_1672+24del
NM_000238.3:c.2692+18_2692+24del , LRG_288t1:c.2692+18_2692+24del	NP_000229.1:n.2692+18_2692+24del
NM_172057.2:c.1672+18_1672+24del , LRG_288t3:c.1672+18_1672+24del	NP_742054.1:n.1672+18_1672+24del
XM_011516185.1:c.2392+18_2392+24del	XP_011514487.1:n.2392+18_2392+24del
XM_011516186.1:c.2692+18_2692+24del	XP_011514488.1:n.2692+18_2692+24del
XM_011516185.2:c.2392+18_2392+24del	XP_011514487.1:n.2392+18_2392+24del
XM_011516186.3:c.2692+18_2692+24del	XP_011514488.1:n.2692+18_2692+24del
XM_017012195.1:c.2542+18_2542+24del	XP_016867684.1:n.2542+18_2542+24del
XM_017012196.1:c.2515+18_2515+24del	XP_016867685.1:n.2515+18_2515+24del
NM_000238.4:c.2692+18_2692+24del MANE Select	NP_000229.1:n.2692+18_2692+24del
NM_172057.3:c.1672+18_1672+24del	NP_742054.1:n.1672+18_1672+24del