Canonical Allele Identifier: CA029793

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 413337
• ClinVar RCV Id: RCV001484185
• dbSNP Id: rs755698372
• ExAC: 7:150648552 G / A
• gnomAD v2: 7-150648552-G-A
• gnomAD v3: 7-150951464-G-A
• gnomAD v4: 7-150951464-G-A
• MyVariant Identifiers: chr7:g.150648552G>A (hg19) ; chr7:g.150951464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951464G>A , CM000669.2:g.150951464G>A	GRCh38
NC_000007.13:g.150648552G>A , CM000669.1:g.150648552G>A	GRCh37
NC_000007.12:g.150279485G>A	NCBI36
NG_008916.1:g.31463C>T , LRG_288:g.31463C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1227C>T
ENST00000683359.1:n.53C>T
ENST00000684241.1:n.2762C>T
ENST00000262186.10:c.1929C>T MANE Select	ENSP00000262186.5:p.Cys643=
ENST00000330883.9:c.909C>T	ENSP00000328531.4:p.Cys303=
ENST00000262186.9:c.1929C>T	ENSP00000262186.5:p.Cys643=
ENST00000330883.8:c.909C>T	ENSP00000328531.4:p.Cys303=
ENST00000430723.4:c.1581C>T	ENSP00000387657.4:p.Cys527=
ENST00000461280.1:n.1216C>T
ENST00000473610.5:n.1234C>T
ENST00000532957.5:n.2152C>T
NM_000238.3:c.1929C>T , LRG_288t1:c.1929C>T	NP_000229.1:p.Cys643=
NM_001204798.1:c.909C>T	NP_001191727.1:p.Cys303=
NM_172056.2:c.1929C>T , LRG_288t2:c.1929C>T	NP_742053.1:p.Cys643=
NM_172057.2:c.909C>T , LRG_288t3:c.909C>T	NP_742054.1:p.Cys303=
XM_011516185.1:c.1629C>T	XP_011514487.1:p.Cys543=
XM_011516186.1:c.1929C>T	XP_011514488.1:p.Cys643=
XM_011516185.2:c.1629C>T	XP_011514487.1:p.Cys543=
XM_011516186.3:c.1929C>T	XP_011514488.1:p.Cys643=
XM_017012195.1:c.1779C>T	XP_016867684.1:p.Cys593=
XM_017012196.1:c.1752C>T	XP_016867685.1:p.Cys584=
NM_000238.4:c.1929C>T MANE Select	NP_000229.1:p.Cys643=
NM_001204798.2:c.909C>T	NP_001191727.1:p.Cys303=
NM_172057.3:c.909C>T	NP_742054.1:p.Cys303=