Canonical Allele Identifier: CA029646

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 629751
• ClinVar RCV Id: RCV001171873 ; RCV001841956 ; RCV003908082
• dbSNP Id: rs41307295
• ExAC: 7:150648594 G / A
• gnomAD v2: 7-150648594-G-A
• gnomAD v3: 7-150951506-G-A
• gnomAD v4: 7-150951506-G-A
• MyVariant Identifiers: chr7:g.150648594G>A (hg19) ; chr7:g.150951506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951506G>A , CM000669.2:g.150951506G>A	GRCh38
NC_000007.13:g.150648594G>A , CM000669.1:g.150648594G>A	GRCh37
NC_000007.12:g.150279527G>A	NCBI36
NG_008916.1:g.31421C>T , LRG_288:g.31421C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1185C>T
ENST00000683359.1:n.11C>T
ENST00000684241.1:n.2720C>T
ENST00000262186.10:c.1887C>T MANE Select	ENSP00000262186.5:p.Asn629=
ENST00000330883.9:c.867C>T	ENSP00000328531.4:p.Asn289=
ENST00000262186.9:c.1887C>T	ENSP00000262186.5:p.Asn629=
ENST00000330883.8:c.867C>T	ENSP00000328531.4:p.Asn289=
ENST00000430723.4:c.1539C>T	ENSP00000387657.4:p.Asn513=
ENST00000461280.1:n.1174C>T
ENST00000473610.5:n.1192C>T
ENST00000532957.5:n.2110C>T
NM_000238.3:c.1887C>T , LRG_288t1:c.1887C>T	NP_000229.1:p.Asn629=
NM_001204798.1:c.867C>T	NP_001191727.1:p.Asn289=
NM_172056.2:c.1887C>T , LRG_288t2:c.1887C>T	NP_742053.1:p.Asn629=
NM_172057.2:c.867C>T , LRG_288t3:c.867C>T	NP_742054.1:p.Asn289=
XM_011516185.1:c.1587C>T	XP_011514487.1:p.Asn529=
XM_011516186.1:c.1887C>T	XP_011514488.1:p.Asn629=
XM_011516185.2:c.1587C>T	XP_011514487.1:p.Asn529=
XM_011516186.3:c.1887C>T	XP_011514488.1:p.Asn629=
XM_017012195.1:c.1737C>T	XP_016867684.1:p.Asn579=
XM_017012196.1:c.1710C>T	XP_016867685.1:p.Asn570=
NM_000238.4:c.1887C>T MANE Select	NP_000229.1:p.Asn629=
NM_001204798.2:c.867C>T	NP_001191727.1:p.Asn289=
NM_172057.3:c.867C>T	NP_742054.1:p.Asn289=