Canonical Allele Identifier: CA369852293

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519524
• ClinVar RCV Id: RCV000621866 ; RCV001389496
• dbSNP Id: rs1554423871
• MyVariant Identifiers: chr7:g.150644102G>A (hg19) ; chr7:g.150947014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947014G>A , CM000669.2:g.150947014G>A	GRCh38
NC_000007.13:g.150644102G>A , CM000669.1:g.150644102G>A	GRCh37
NC_000007.12:g.150275035G>A	NCBI36
NG_008916.1:g.35913C>T , LRG_288:g.35913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4026C>T
ENST00000262186.10:c.3193C>T MANE Select	ENSP00000262186.5:p.Gln1065Ter
ENST00000330883.9:c.2173C>T	ENSP00000328531.4:p.Gln725Ter
ENST00000262186.9:c.3193C>T	ENSP00000262186.5:p.Gln1065Ter
ENST00000330883.8:c.2173C>T	ENSP00000328531.4:p.Gln725Ter
NM_000238.3:c.3193C>T , LRG_288t1:c.3193C>T	NP_000229.1:p.Gln1065Ter
NM_172057.2:c.2173C>T , LRG_288t3:c.2173C>T	NP_742054.1:p.Gln725Ter
XM_011516185.1:c.2893C>T	XP_011514487.1:p.Gln965Ter
XM_011516185.2:c.2893C>T	XP_011514487.1:p.Gln965Ter
XM_017012195.1:c.3043C>T	XP_016867684.1:p.Gln1015Ter
XM_017012196.1:c.3016C>T	XP_016867685.1:p.Gln1006Ter
NM_000238.4:c.3193C>T MANE Select	NP_000229.1:p.Gln1065Ter
NM_172057.3:c.2173C>T	NP_742054.1:p.Gln725Ter