Canonical Allele Identifier: CA005401

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200739
• ClinVar RCV Id: RCV000182029 ; RCV001852296
• dbSNP Id: rs794728484
• MyVariant Identifiers: chr7:g.150648727C>A (hg19) ; chr7:g.150951639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951639C>A , CM000669.2:g.150951639C>A	GRCh38
NC_000007.13:g.150648727C>A , CM000669.1:g.150648727C>A	GRCh37
NC_000007.12:g.150279660C>A	NCBI36
NG_008916.1:g.31288G>T , LRG_288:g.31288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1052G>T
ENST00000684241.1:n.2587G>T
ENST00000262186.10:c.1754G>T MANE Select	ENSP00000262186.5:p.Trp585Leu
ENST00000330883.9:c.734G>T	ENSP00000328531.4:p.Trp245Leu
ENST00000262186.9:c.1754G>T	ENSP00000262186.5:p.Trp585Leu
ENST00000330883.8:c.734G>T	ENSP00000328531.4:p.Trp245Leu
ENST00000430723.4:c.1406G>T	ENSP00000387657.4:p.Trp469Leu
ENST00000461280.1:n.1041G>T
ENST00000473610.5:n.1059G>T
ENST00000532957.5:n.1977G>T
NM_000238.3:c.1754G>T , LRG_288t1:c.1754G>T	NP_000229.1:p.Trp585Leu
NM_001204798.1:c.734G>T	NP_001191727.1:p.Trp245Leu
NM_172056.2:c.1754G>T , LRG_288t2:c.1754G>T	NP_742053.1:p.Trp585Leu
NM_172057.2:c.734G>T , LRG_288t3:c.734G>T	NP_742054.1:p.Trp245Leu
XM_011516185.1:c.1454G>T	XP_011514487.1:p.Trp485Leu
XM_011516186.1:c.1754G>T	XP_011514488.1:p.Trp585Leu
XM_011516185.2:c.1454G>T	XP_011514487.1:p.Trp485Leu
XM_011516186.3:c.1754G>T	XP_011514488.1:p.Trp585Leu
XM_017012195.1:c.1604G>T	XP_016867684.1:p.Trp535Leu
XM_017012196.1:c.1577G>T	XP_016867685.1:p.Trp526Leu
NM_000238.4:c.1754G>T MANE Select	NP_000229.1:p.Trp585Leu
NM_001204798.2:c.734G>T	NP_001191727.1:p.Trp245Leu
NM_172057.3:c.734G>T	NP_742054.1:p.Trp245Leu