Canonical Allele Identifier: CA1108704811

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800979218
• gnomAD v3: 7-150947929-G-GGGGGCGAGGGTGGAGGAGGGGACA
• gnomAD v4: 7-150947929-G-GGGGGCGAGGGTGGAGGAGGGGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947932_150947955dup , CM000669.2:g.150947932_150947955dup	GRCh38
NC_000007.13:g.150645020_150645043dup , CM000669.1:g.150645020_150645043dup	GRCh37
NC_000007.12:g.150275953_150275976dup	NCBI36
NG_008916.1:g.34974_34997dup , LRG_288:g.34974_34997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-75_3526-52dup
ENST00000262186.10:c.2693-75_2693-52dup MANE Select	ENSP00000262186.5:n.2693-75_2693-52dup
ENST00000330883.9:c.1673-75_1673-52dup	ENSP00000328531.4:n.1673-75_1673-52dup
ENST00000262186.9:c.2693-75_2693-52dup	ENSP00000262186.5:n.2693-75_2693-52dup
ENST00000330883.8:c.1673-75_1673-52dup	ENSP00000328531.4:n.1673-75_1673-52dup
NM_000238.3:c.2693-75_2693-52dup , LRG_288t1:c.2693-75_2693-52dup	NP_000229.1:n.2693-75_2693-52dup
NM_172057.2:c.1673-75_1673-52dup , LRG_288t3:c.1673-75_1673-52dup	NP_742054.1:n.1673-75_1673-52dup
XM_011516185.1:c.2393-75_2393-52dup	XP_011514487.1:n.2393-75_2393-52dup
XM_011516186.1:c.2693-262_2693-239dup	XP_011514488.1:n.2693-262_2693-239dup
XM_011516185.2:c.2393-75_2393-52dup	XP_011514487.1:n.2393-75_2393-52dup
XM_011516186.3:c.2693-262_2693-239dup	XP_011514488.1:n.2693-262_2693-239dup
XM_017012195.1:c.2543-75_2543-52dup	XP_016867684.1:n.2543-75_2543-52dup
XM_017012196.1:c.2516-75_2516-52dup	XP_016867685.1:n.2516-75_2516-52dup
NM_000238.4:c.2693-75_2693-52dup MANE Select	NP_000229.1:n.2693-75_2693-52dup
NM_172057.3:c.1673-75_1673-52dup	NP_742054.1:n.1673-75_1673-52dup