Canonical Allele Identifier: CA169073057

Gene: KCNH2

Linked Data

• dbSNP Id: rs946006577
• gnomAD v2: 7-150645487-TCAC-T
• gnomAD v4: 7-150948399-TCAC-T
• MyVariant Identifiers: chr7:g.150645488_150645490del (hg19) ; chr7:g.150948400_150948402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948401_150948403del , CM000669.2:g.150948401_150948403del	GRCh38
NC_000007.13:g.150645489_150645491del , CM000669.1:g.150645489_150645491del	GRCh37
NC_000007.12:g.150276422_150276424del	NCBI36
NG_008916.1:g.34525_34527del , LRG_288:g.34525_34527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+42_3525+44del
ENST00000262186.10:c.2692+42_2692+44del MANE Select	ENSP00000262186.5:n.2692+42_2692+44del
ENST00000330883.9:c.1672+42_1672+44del	ENSP00000328531.4:n.1672+42_1672+44del
ENST00000262186.9:c.2692+42_2692+44del	ENSP00000262186.5:n.2692+42_2692+44del
ENST00000330883.8:c.1672+42_1672+44del	ENSP00000328531.4:n.1672+42_1672+44del
NM_000238.3:c.2692+42_2692+44del , LRG_288t1:c.2692+42_2692+44del	NP_000229.1:n.2692+42_2692+44del
NM_172057.2:c.1672+42_1672+44del , LRG_288t3:c.1672+42_1672+44del	NP_742054.1:n.1672+42_1672+44del
XM_011516185.1:c.2392+42_2392+44del	XP_011514487.1:n.2392+42_2392+44del
XM_011516186.1:c.2692+42_2692+44del	XP_011514488.1:n.2692+42_2692+44del
XM_011516185.2:c.2392+42_2392+44del	XP_011514487.1:n.2392+42_2392+44del
XM_011516186.3:c.2692+42_2692+44del	XP_011514488.1:n.2692+42_2692+44del
XM_017012195.1:c.2542+42_2542+44del	XP_016867684.1:n.2542+42_2542+44del
XM_017012196.1:c.2515+42_2515+44del	XP_016867685.1:n.2515+42_2515+44del
NM_000238.4:c.2692+42_2692+44del MANE Select	NP_000229.1:n.2692+42_2692+44del
NM_172057.3:c.1672+42_1672+44del	NP_742054.1:n.1672+42_1672+44del