Canonical Allele Identifier: CA006365

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67377
• ClinVar RCV Id: RCV000058097 ; RCV000807020 ; RCV002247457
• dbSNP Id: rs199473422
• MyVariant Identifiers: chr7:g.150671885G>A (hg19) ; chr7:g.150974797G>A (hg38)
• PubMed: PMID:16414944 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974797G>A , CM000669.2:g.150974797G>A	GRCh38
NC_000007.13:g.150671885G>A , CM000669.1:g.150671885G>A	GRCh37
NC_000007.12:g.150302818G>A	NCBI36
NG_008916.1:g.8130C>T , LRG_288:g.8130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.221C>T MANE Select	ENSP00000262186.5:p.Thr74Met
ENST00000262186.9:c.221C>T	ENSP00000262186.5:p.Thr74Met
ENST00000430723.4:c.44C>T	ENSP00000387657.4:p.Thr15Met
ENST00000532957.5:n.444C>T
NM_000238.3:c.221C>T , LRG_288t1:c.221C>T	NP_000229.1:p.Thr74Met
NM_172056.2:c.221C>T , LRG_288t2:c.221C>T	NP_742053.1:p.Thr74Met
XM_011516186.1:c.221C>T	XP_011514488.1:p.Thr74Met
XM_011516186.3:c.221C>T	XP_011514488.1:p.Thr74Met
XM_017012196.1:c.44C>T	XP_016867685.1:p.Thr15Met
NM_000238.4:c.221C>T MANE Select	NP_000229.1:p.Thr74Met