Canonical Allele Identifier: CA578701739

Gene: KCNH2

Linked Data

• gnomAD v2: 7-150645518-CTCCCCCG-C
• gnomAD v4: 7-150948430-CTCCCCCG-C
• MyVariant Identifiers: chr7:g.150645519_150645525del (hg19) ; chr7:g.150948431_150948437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948431_150948437del , CM000669.2:g.150948431_150948437del	GRCh38
NC_000007.13:g.150645519_150645525del , CM000669.1:g.150645519_150645525del	GRCh37
NC_000007.12:g.150276452_150276458del	NCBI36
NG_008916.1:g.34490_34496del , LRG_288:g.34490_34496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+7_3525+13del
ENST00000262186.10:c.2692+7_2692+13del MANE Select	ENSP00000262186.5:n.2692+7_2692+13del
ENST00000330883.9:c.1672+7_1672+13del	ENSP00000328531.4:n.1672+7_1672+13del
ENST00000262186.9:c.2692+7_2692+13del	ENSP00000262186.5:n.2692+7_2692+13del
ENST00000330883.8:c.1672+7_1672+13del	ENSP00000328531.4:n.1672+7_1672+13del
NM_000238.3:c.2692+7_2692+13del , LRG_288t1:c.2692+7_2692+13del	NP_000229.1:n.2692+7_2692+13del
NM_172057.2:c.1672+7_1672+13del , LRG_288t3:c.1672+7_1672+13del	NP_742054.1:n.1672+7_1672+13del
XM_011516185.1:c.2392+7_2392+13del	XP_011514487.1:n.2392+7_2392+13del
XM_011516186.1:c.2692+7_2692+13del	XP_011514488.1:n.2692+7_2692+13del
XM_011516185.2:c.2392+7_2392+13del	XP_011514487.1:n.2392+7_2392+13del
XM_011516186.3:c.2692+7_2692+13del	XP_011514488.1:n.2692+7_2692+13del
XM_017012195.1:c.2542+7_2542+13del	XP_016867684.1:n.2542+7_2542+13del
XM_017012196.1:c.2515+7_2515+13del	XP_016867685.1:n.2515+7_2515+13del
NM_000238.4:c.2692+7_2692+13del MANE Select	NP_000229.1:n.2692+7_2692+13del
NM_172057.3:c.1672+7_1672+13del	NP_742054.1:n.1672+7_1672+13del