Canonical Allele Identifier: CA369863720

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1480383
• ClinVar RCV Id: RCV001991288
• dbSNP Id: rs2117011882
• MyVariant Identifiers: chr7:g.150656726C>A (hg19) ; chr7:g.150959638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959638C>A , CM000669.2:g.150959638C>A	GRCh38
NC_000007.13:g.150656726C>A , CM000669.1:g.150656726C>A	GRCh37
NC_000007.12:g.150287659C>A	NCBI36
NG_008916.1:g.23289G>T , LRG_288:g.23289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1239G>T
ENST00000262186.10:c.406G>T MANE Select	ENSP00000262186.5:p.Asp136Tyr
ENST00000262186.9:c.406G>T	ENSP00000262186.5:p.Asp136Tyr
ENST00000430723.4:c.229G>T	ENSP00000387657.4:p.Asp77Tyr
ENST00000532957.5:n.629G>T
NM_000238.3:c.406G>T , LRG_288t1:c.406G>T	NP_000229.1:p.Asp136Tyr
NM_172056.2:c.406G>T , LRG_288t2:c.406G>T	NP_742053.1:p.Asp136Tyr
XM_011516185.1:c.106G>T	XP_011514487.1:p.Asp36Tyr
XM_011516186.1:c.406G>T	XP_011514488.1:p.Asp136Tyr
XM_011516185.2:c.106G>T	XP_011514487.1:p.Asp36Tyr
XM_011516186.3:c.406G>T	XP_011514488.1:p.Asp136Tyr
XM_017012195.1:c.256G>T	XP_016867684.1:p.Asp86Tyr
XM_017012196.1:c.229G>T	XP_016867685.1:p.Asp77Tyr
NM_000238.4:c.406G>T MANE Select	NP_000229.1:p.Asp136Tyr