Canonical Allele Identifier: CA369857667

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 647535
• ClinVar RCV Id: RCV000802061
• dbSNP Id: rs1584852286
• MyVariant Identifiers: chr7:g.150648148C>G (hg19) ; chr7:g.150951060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951060C>G , CM000669.2:g.150951060C>G	GRCh38
NC_000007.13:g.150648148C>G , CM000669.1:g.150648148C>G	GRCh37
NC_000007.12:g.150279081C>G	NCBI36
NG_008916.1:g.31867G>C , LRG_288:g.31867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1304G>C
ENST00000683359.1:n.130G>C
ENST00000684241.1:n.2839G>C
ENST00000262186.10:c.2006G>C MANE Select	ENSP00000262186.5:p.Gly669Ala
ENST00000330883.9:c.986G>C	ENSP00000328531.4:p.Gly329Ala
ENST00000262186.9:c.2006G>C	ENSP00000262186.5:p.Gly669Ala
ENST00000330883.8:c.986G>C	ENSP00000328531.4:p.Gly329Ala
ENST00000430723.4:c.1658G>C	ENSP00000387657.4:p.Gly553Ala
ENST00000461280.1:n.1293G>C
ENST00000473610.5:n.1638G>C
ENST00000532957.5:n.2229G>C
NM_000238.3:c.2006G>C , LRG_288t1:c.2006G>C	NP_000229.1:p.Gly669Ala
NM_001204798.1:c.986G>C	NP_001191727.1:p.Gly329Ala
NM_172056.2:c.2006G>C , LRG_288t2:c.2006G>C	NP_742053.1:p.Gly669Ala
NM_172057.2:c.986G>C , LRG_288t3:c.986G>C	NP_742054.1:p.Gly329Ala
XM_011516185.1:c.1706G>C	XP_011514487.1:p.Gly569Ala
XM_011516186.1:c.2006G>C	XP_011514488.1:p.Gly669Ala
XM_011516185.2:c.1706G>C	XP_011514487.1:p.Gly569Ala
XM_011516186.3:c.2006G>C	XP_011514488.1:p.Gly669Ala
XM_017012195.1:c.1856G>C	XP_016867684.1:p.Gly619Ala
XM_017012196.1:c.1829G>C	XP_016867685.1:p.Gly610Ala
NM_000238.4:c.2006G>C MANE Select	NP_000229.1:p.Gly669Ala
NM_001204798.2:c.986G>C	NP_001191727.1:p.Gly329Ala
NM_172057.3:c.986G>C	NP_742054.1:p.Gly329Ala