Canonical Allele Identifier: CA915945567

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 637977
• ClinVar RCV Id: RCV000790443 ; RCV001043963 ; RCV003362938
• dbSNP Id: rs1584843033

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947372dup , CM000669.2:g.150947372dup	GRCh38
NC_000007.13:g.150644460dup , CM000669.1:g.150644460dup	GRCh37
NC_000007.12:g.150275393dup	NCBI36
NG_008916.1:g.35555dup , LRG_288:g.35555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3941dup
ENST00000262186.10:c.3108dup MANE Select	ENSP00000262186.5:p.Asp1037ArgfsTer?
ENST00000330883.9:c.2088dup	ENSP00000328531.4:p.Asp697ArgfsTer?
ENST00000262186.9:c.3108dup	ENSP00000262186.5:p.Asp1037ArgfsTer?
ENST00000330883.8:c.2088dup	ENSP00000328531.4:p.Asp697ArgfsTer?
NM_000238.3:c.3108dup , LRG_288t1:c.3108dup	NP_000229.1:p.Asp1037ArgfsTer?
NM_172057.2:c.2088dup , LRG_288t3:c.2088dup	NP_742054.1:p.Asp697ArgfsTer?
XM_011516185.1:c.2808dup	XP_011514487.1:p.Asp937ArgfsTer?
XM_011516185.2:c.2808dup	XP_011514487.1:p.Asp937ArgfsTer?
XM_017012195.1:c.2958dup	XP_016867684.1:p.Asp987ArgfsTer?
XM_017012196.1:c.2931dup	XP_016867685.1:p.Asp978ArgfsTer?
NM_000238.4:c.3108dup MANE Select	NP_000229.1:p.Asp1037ArgfsTer?
NM_172057.3:c.2088dup	NP_742054.1:p.Asp697ArgfsTer?