Canonical Allele Identifier: CA006704

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67396
• ClinVar RCV Id: RCV000058118 ; RCV000182046
• dbSNP Id: rs199472999
• MyVariant Identifiers: chr7:g.150646122A>G (hg19) ; chr7:g.150949034A>G (hg38)
• PubMed: PMID:10973849 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949034A>G , CM000669.2:g.150949034A>G	GRCh38
NC_000007.13:g.150646122A>G , CM000669.1:g.150646122A>G	GRCh37
NC_000007.12:g.150277055A>G	NCBI36
NG_008916.1:g.33893T>C , LRG_288:g.33893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3247T>C
ENST00000262186.10:c.2414T>C MANE Select	ENSP00000262186.5:p.Phe805Ser
ENST00000330883.9:c.1394T>C	ENSP00000328531.4:p.Phe465Ser
ENST00000262186.9:c.2414T>C	ENSP00000262186.5:p.Phe805Ser
ENST00000330883.8:c.1394T>C	ENSP00000328531.4:p.Phe465Ser
NM_000238.3:c.2414T>C , LRG_288t1:c.2414T>C	NP_000229.1:p.Phe805Ser
NM_172057.2:c.1394T>C , LRG_288t3:c.1394T>C	NP_742054.1:p.Phe465Ser
XM_011516185.1:c.2114T>C	XP_011514487.1:p.Phe705Ser
XM_011516186.1:c.2414T>C	XP_011514488.1:p.Phe805Ser
XM_011516185.2:c.2114T>C	XP_011514487.1:p.Phe705Ser
XM_011516186.3:c.2414T>C	XP_011514488.1:p.Phe805Ser
XM_017012195.1:c.2264T>C	XP_016867684.1:p.Phe755Ser
XM_017012196.1:c.2237T>C	XP_016867685.1:p.Phe746Ser
NM_000238.4:c.2414T>C MANE Select	NP_000229.1:p.Phe805Ser
NM_172057.3:c.1394T>C	NP_742054.1:p.Phe465Ser