Canonical Allele Identifier: CA1108704870

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800996179
• gnomAD v3: 7-150948359-T-TA
• gnomAD v4: 7-150948359-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948362dup , CM000669.2:g.150948362dup	GRCh38
NC_000007.13:g.150645450dup , CM000669.1:g.150645450dup	GRCh37
NC_000007.12:g.150276383dup	NCBI36
NG_008916.1:g.34567dup , LRG_288:g.34567dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+84dup
ENST00000262186.10:c.2692+84dup MANE Select	ENSP00000262186.5:n.2692+84dup
ENST00000330883.9:c.1672+84dup	ENSP00000328531.4:n.1672+84dup
ENST00000262186.9:c.2692+84dup	ENSP00000262186.5:n.2692+84dup
ENST00000330883.8:c.1672+84dup	ENSP00000328531.4:n.1672+84dup
NM_000238.3:c.2692+84dup , LRG_288t1:c.2692+84dup	NP_000229.1:n.2692+84dup
NM_172057.2:c.1672+84dup , LRG_288t3:c.1672+84dup	NP_742054.1:n.1672+84dup
XM_011516185.1:c.2392+84dup	XP_011514487.1:n.2392+84dup
XM_011516186.1:c.2692+84dup	XP_011514488.1:n.2692+84dup
XM_011516185.2:c.2392+84dup	XP_011514487.1:n.2392+84dup
XM_011516186.3:c.2692+84dup	XP_011514488.1:n.2692+84dup
XM_017012195.1:c.2542+84dup	XP_016867684.1:n.2542+84dup
XM_017012196.1:c.2515+84dup	XP_016867685.1:n.2515+84dup
NM_000238.4:c.2692+84dup MANE Select	NP_000229.1:n.2692+84dup
NM_172057.3:c.1672+84dup	NP_742054.1:n.1672+84dup