Canonical Allele Identifier: CA305336

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200699
• ClinVar RCV Id: RCV001842854 ; RCV002321717 ; RCV003532024
• dbSNP Id: rs794728467
• gnomAD v4: 7-150947380-G-GCCGC
• MyVariant Identifiers: chr7:g.150644469_150644472dupCCGC (hg19) ; chr7:g.150644468_150644469insCCGC (hg19) ; chr7:g.150947381_150947384dupCCGC (hg38) ; chr7:g.150947380_150947381insCCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947382_150947385dup , CM000669.2:g.150947382_150947385dup	GRCh38
NC_000007.13:g.150644470_150644473dup , CM000669.1:g.150644470_150644473dup	GRCh37
NC_000007.12:g.150275403_150275406dup	NCBI36
NG_008916.1:g.35543_35546dup , LRG_288:g.35543_35546dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3929_3932dup
ENST00000262186.10:c.3096_3099dup MANE Select	ENSP00000262186.5:p.Pro1034AlafsTer?
ENST00000330883.9:c.2076_2079dup	ENSP00000328531.4:p.Pro694AlafsTer?
ENST00000262186.9:c.3096_3099dup	ENSP00000262186.5:p.Pro1034AlafsTer?
ENST00000330883.8:c.2076_2079dup	ENSP00000328531.4:p.Pro694AlafsTer?
NM_000238.3:c.3096_3099dup , LRG_288t1:c.3096_3099dup	NP_000229.1:p.Pro1034AlafsTer?
NM_172057.2:c.2076_2079dup , LRG_288t3:c.2076_2079dup	NP_742054.1:p.Pro694AlafsTer?
XM_011516185.1:c.2796_2799dup	XP_011514487.1:p.Pro934AlafsTer?
XM_011516185.2:c.2796_2799dup	XP_011514487.1:p.Pro934AlafsTer?
XM_017012195.1:c.2946_2949dup	XP_016867684.1:p.Pro984AlafsTer?
XM_017012196.1:c.2919_2922dup	XP_016867685.1:p.Pro975AlafsTer?
NM_000238.4:c.3096_3099dup MANE Select	NP_000229.1:p.Pro1034AlafsTer?
NM_172057.3:c.2076_2079dup	NP_742054.1:p.Pro694AlafsTer?