Canonical Allele Identifier: CA005941

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67327
• ClinVar RCV Id: RCV000058046 ; RCV001207618 ; RCV002408566
• dbSNP Id: rs199472964
• MyVariant Identifiers: chr7:g.150648577T>A (hg19) ; chr7:g.150951489T>A (hg38)
• PubMed: PMID:15840476 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951489T>A , CM000669.2:g.150951489T>A	GRCh38
NC_000007.13:g.150648577T>A , CM000669.1:g.150648577T>A	GRCh37
NC_000007.12:g.150279510T>A	NCBI36
NG_008916.1:g.31438A>T , LRG_288:g.31438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1202A>T
ENST00000683359.1:n.28A>T
ENST00000684241.1:n.2737A>T
ENST00000262186.10:c.1904A>T MANE Select	ENSP00000262186.5:p.Asn635Ile
ENST00000330883.9:c.884A>T	ENSP00000328531.4:p.Asn295Ile
ENST00000262186.9:c.1904A>T	ENSP00000262186.5:p.Asn635Ile
ENST00000330883.8:c.884A>T	ENSP00000328531.4:p.Asn295Ile
ENST00000430723.4:c.1556A>T	ENSP00000387657.4:p.Asn519Ile
ENST00000461280.1:n.1191A>T
ENST00000473610.5:n.1209A>T
ENST00000532957.5:n.2127A>T
NM_000238.3:c.1904A>T , LRG_288t1:c.1904A>T	NP_000229.1:p.Asn635Ile
NM_001204798.1:c.884A>T	NP_001191727.1:p.Asn295Ile
NM_172056.2:c.1904A>T , LRG_288t2:c.1904A>T	NP_742053.1:p.Asn635Ile
NM_172057.2:c.884A>T , LRG_288t3:c.884A>T	NP_742054.1:p.Asn295Ile
XM_011516185.1:c.1604A>T	XP_011514487.1:p.Asn535Ile
XM_011516186.1:c.1904A>T	XP_011514488.1:p.Asn635Ile
XM_011516185.2:c.1604A>T	XP_011514487.1:p.Asn535Ile
XM_011516186.3:c.1904A>T	XP_011514488.1:p.Asn635Ile
XM_017012195.1:c.1754A>T	XP_016867684.1:p.Asn585Ile
XM_017012196.1:c.1727A>T	XP_016867685.1:p.Asn576Ile
NM_000238.4:c.1904A>T MANE Select	NP_000229.1:p.Asn635Ile
NM_001204798.2:c.884A>T	NP_001191727.1:p.Asn295Ile
NM_172057.3:c.884A>T	NP_742054.1:p.Asn295Ile