Canonical Allele Identifier: CA305334

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200691
• ClinVar RCV Id: RCV001389519 ; RCV001594866 ; RCV001842851
• dbSNP Id: rs794728464
• MyVariant Identifiers: chr7:g.150644601_150644604dupGCCT (hg19) ; chr7:g.150644600_150644601insGCCT (hg19) ; chr7:g.150947513_150947516dupGCCT (hg38) ; chr7:g.150947512_150947513insGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947515_150947518dup , CM000669.2:g.150947515_150947518dup	GRCh38
NC_000007.13:g.150644603_150644606dup , CM000669.1:g.150644603_150644606dup	GRCh37
NC_000007.12:g.150275536_150275539dup	NCBI36
NG_008916.1:g.35411_35414dup , LRG_288:g.35411_35414dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3799-2_3800dup
ENST00000262186.10:c.2966-2_2967dup
ENST00000330883.9:c.1946-2_1947dup
ENST00000262186.9:c.2966-2_2967dup
ENST00000330883.8:c.1946-2_1947dup
NM_000238.3:c.2966-2_2967dup , LRG_288t1:c.2966-2_2967dup
NM_172057.2:c.1946-2_1947dup , LRG_288t3:c.1946-2_1947dup
XM_011516185.1:c.2666-2_2667dup
XM_011516186.1:c.*46-2_*47dup
XM_011516185.2:c.2666-2_2667dup
XM_011516186.3:c.*46-2_*47dup
XM_017012195.1:c.2816-2_2817dup
XM_017012196.1:c.2789-2_2790dup
NM_000238.4:c.2966-2_2967dup
NM_172057.3:c.1946-2_1947dup