Canonical Allele Identifier: CA16042570

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 372571
• ClinVar RCV Id: RCV000412915
• dbSNP Id: rs794728469
• MyVariant Identifiers: chr7:g.150644461_150644462dupCC (hg19) ; chr7:g.150644460_150644461insCC (hg19) ; chr7:g.150947373_150947374dupCC (hg38) ; chr7:g.150947372_150947373insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947375_150947376dup , CM000669.2:g.150947375_150947376dup	GRCh38
NC_000007.13:g.150644463_150644464dup , CM000669.1:g.150644463_150644464dup	GRCh37
NC_000007.12:g.150275396_150275397dup	NCBI36
NG_008916.1:g.35553_35554dup , LRG_288:g.35553_35554dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3939_3940dup
ENST00000262186.10:c.3106_3107dup MANE Select	ENSP00000262186.5:p.Asp1037AlafsTer21
ENST00000330883.9:c.2086_2087dup	ENSP00000328531.4:p.Asp697AlafsTer21
ENST00000262186.9:c.3106_3107dup	ENSP00000262186.5:p.Asp1037AlafsTer21
ENST00000330883.8:c.2086_2087dup	ENSP00000328531.4:p.Asp697AlafsTer21
NM_000238.3:c.3106_3107dup , LRG_288t1:c.3106_3107dup	NP_000229.1:p.Asp1037AlafsTer21
NM_172057.2:c.2086_2087dup , LRG_288t3:c.2086_2087dup	NP_742054.1:p.Asp697AlafsTer21
XM_011516185.1:c.2806_2807dup	XP_011514487.1:p.Asp937AlafsTer21
XM_011516185.2:c.2806_2807dup	XP_011514487.1:p.Asp937AlafsTer21
XM_017012195.1:c.2956_2957dup	XP_016867684.1:p.Asp987AlafsTer21
XM_017012196.1:c.2929_2930dup	XP_016867685.1:p.Asp978AlafsTer21
NM_000238.4:c.3106_3107dup MANE Select	NP_000229.1:p.Asp1037AlafsTer21
NM_172057.3:c.2086_2087dup	NP_742054.1:p.Asp697AlafsTer21