Canonical Allele Identifier: CA369863691

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1945738
• ClinVar RCV Id: RCV002643536
• dbSNP Id: rs1287920132
• gnomAD v2: 7-150656713-G-T
• gnomAD v4: 7-150959625-G-T
• MyVariant Identifiers: chr7:g.150656713G>T (hg19) ; chr7:g.150959625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959625G>T , CM000669.2:g.150959625G>T	GRCh38
NC_000007.13:g.150656713G>T , CM000669.1:g.150656713G>T	GRCh37
NC_000007.12:g.150287646G>T	NCBI36
NG_008916.1:g.23302C>A , LRG_288:g.23302C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1252C>A
ENST00000262186.10:c.419C>A MANE Select	ENSP00000262186.5:p.Ser140Tyr
ENST00000262186.9:c.419C>A	ENSP00000262186.5:p.Ser140Tyr
ENST00000430723.4:c.234+8C>A	ENSP00000387657.4:n.234+8C>A
ENST00000532957.5:n.642C>A
NM_000238.3:c.419C>A , LRG_288t1:c.419C>A	NP_000229.1:p.Ser140Tyr
NM_172056.2:c.419C>A , LRG_288t2:c.419C>A	NP_742053.1:p.Ser140Tyr
XM_011516185.1:c.119C>A	XP_011514487.1:p.Ser40Tyr
XM_011516186.1:c.419C>A	XP_011514488.1:p.Ser140Tyr
XM_011516185.2:c.119C>A	XP_011514487.1:p.Ser40Tyr
XM_011516186.3:c.419C>A	XP_011514488.1:p.Ser140Tyr
XM_017012195.1:c.269C>A	XP_016867684.1:p.Ser90Tyr
XM_017012196.1:c.242C>A	XP_016867685.1:p.Ser81Tyr
NM_000238.4:c.419C>A MANE Select	NP_000229.1:p.Ser140Tyr