Canonical Allele Identifier: CA305326

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200660
• ClinVar RCV Id: RCV000181987 ; RCV002426875 ; RCV000631709 ; RCV004017460
• dbSNP Id: rs794728449
• gnomAD v3: 7-150947842-G-GGCCCC
• gnomAD v4: 7-150947842-G-GGCCCC
• MyVariant Identifiers: chr7:g.150644931_150644935dupGCCCC (hg19) ; chr7:g.150644930_150644931insGCCCC (hg19) ; chr7:g.150947843_150947847dupGCCCC (hg38) ; chr7:g.150947842_150947843insGCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947843_150947847dup , CM000669.2:g.150947843_150947847dup	GRCh38
NC_000007.13:g.150644931_150644935dup , CM000669.1:g.150644931_150644935dup	GRCh37
NC_000007.12:g.150275864_150275868dup	NCBI36
NG_008916.1:g.35080_35084dup , LRG_288:g.35080_35084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3557_3561dup
ENST00000262186.10:c.2724_2728dup MANE Select	ENSP00000262186.5:p.Pro910ArgfsTer?
ENST00000330883.9:c.1704_1708dup	ENSP00000328531.4:p.Pro570ArgfsTer?
ENST00000262186.9:c.2724_2728dup	ENSP00000262186.5:p.Pro910ArgfsTer?
ENST00000330883.8:c.1704_1708dup	ENSP00000328531.4:p.Pro570ArgfsTer?
NM_000238.3:c.2724_2728dup , LRG_288t1:c.2724_2728dup	NP_000229.1:p.Pro910ArgfsTer?
NM_172057.2:c.1704_1708dup , LRG_288t3:c.1704_1708dup	NP_742054.1:p.Pro570ArgfsTer?
XM_011516185.1:c.2424_2428dup	XP_011514487.1:p.Pro810ArgfsTer?
XM_011516186.1:c.2693-156_2693-152dup	XP_011514488.1:n.2693-156_2693-152dup
XM_011516185.2:c.2424_2428dup	XP_011514487.1:p.Pro810ArgfsTer?
XM_011516186.3:c.2693-156_2693-152dup	XP_011514488.1:n.2693-156_2693-152dup
XM_017012195.1:c.2574_2578dup	XP_016867684.1:p.Pro860ArgfsTer?
XM_017012196.1:c.2547_2551dup	XP_016867685.1:p.Pro851ArgfsTer?
NM_000238.4:c.2724_2728dup MANE Select	NP_000229.1:p.Pro910ArgfsTer?
NM_172057.3:c.1704_1708dup	NP_742054.1:p.Pro570ArgfsTer?