Canonical Allele Identifier: CA006061

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14434
• ClinVar RCV Id: RCV000015515 ; RCV000058063
• dbSNP Id: rs121912511
• MyVariant Identifiers: chr7:g.150671913T>G (hg19) ; chr7:g.150974825T>G (hg38)
• PubMed: PMID:12354768 ; PMID:15840476 ; PMID:16922724 ; PMID:21661061 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974825T>G , CM000669.2:g.150974825T>G	GRCh38
NC_000007.13:g.150671913T>G , CM000669.1:g.150671913T>G	GRCh37
NC_000007.12:g.150302846T>G	NCBI36
NG_008916.1:g.8102A>C , LRG_288:g.8102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.193A>C MANE Select	ENSP00000262186.5:p.Thr65Pro
ENST00000262186.9:c.193A>C	ENSP00000262186.5:p.Thr65Pro
ENST00000430723.4:c.16A>C	ENSP00000387657.4:p.Thr6Pro
ENST00000532957.5:n.416A>C
NM_000238.3:c.193A>C , LRG_288t1:c.193A>C	NP_000229.1:p.Thr65Pro
NM_172056.2:c.193A>C , LRG_288t2:c.193A>C	NP_742053.1:p.Thr65Pro
XM_011516186.1:c.193A>C	XP_011514488.1:p.Thr65Pro
XM_011516186.3:c.193A>C	XP_011514488.1:p.Thr65Pro
XM_017012196.1:c.16A>C	XP_016867685.1:p.Thr6Pro
NM_000238.4:c.193A>C MANE Select	NP_000229.1:p.Thr65Pro