Canonical Allele Identifier: CA1139771242

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1804945
• ClinVar RCV Id: RCV002471363 ; RCV003775509

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947382dup , CM000669.2:g.150947382dup	GRCh38
NC_000007.13:g.150644470dup , CM000669.1:g.150644470dup	GRCh37
NC_000007.12:g.150275403dup	NCBI36
NG_008916.1:g.35546dup , LRG_288:g.35546dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3932dup
ENST00000262186.10:c.3099dup MANE Select	ENSP00000262186.5:p.Pro1034AlafsTer?
ENST00000330883.9:c.2079dup	ENSP00000328531.4:p.Pro694AlafsTer?
ENST00000262186.9:c.3099dup	ENSP00000262186.5:p.Pro1034AlafsTer?
ENST00000330883.8:c.2079dup	ENSP00000328531.4:p.Pro694AlafsTer?
NM_000238.3:c.3099dup , LRG_288t1:c.3099dup	NP_000229.1:p.Pro1034AlafsTer?
NM_172057.2:c.2079dup , LRG_288t3:c.2079dup	NP_742054.1:p.Pro694AlafsTer?
XM_011516185.1:c.2799dup	XP_011514487.1:p.Pro934AlafsTer?
XM_011516185.2:c.2799dup	XP_011514487.1:p.Pro934AlafsTer?
XM_017012195.1:c.2949dup	XP_016867684.1:p.Pro984AlafsTer?
XM_017012196.1:c.2922dup	XP_016867685.1:p.Pro975AlafsTer?
NM_000238.4:c.3099dup MANE Select	NP_000229.1:p.Pro1034AlafsTer?
NM_172057.3:c.2079dup	NP_742054.1:p.Pro694AlafsTer?