Canonical Allele Identifier: CA369858001

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456895
• ClinVar RCV Id: RCV000534743
• dbSNP Id: rs199472940
• MyVariant Identifiers: chr7:g.150648655T>G (hg19) ; chr7:g.150951567T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951567T>G , CM000669.2:g.150951567T>G	GRCh38
NC_000007.13:g.150648655T>G , CM000669.1:g.150648655T>G	GRCh37
NC_000007.12:g.150279588T>G	NCBI36
NG_008916.1:g.31360A>C , LRG_288:g.31360A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1124A>C
ENST00000684241.1:n.2659A>C
ENST00000262186.10:c.1826A>C MANE Select	ENSP00000262186.5:p.Asp609Ala
ENST00000330883.9:c.806A>C	ENSP00000328531.4:p.Asp269Ala
ENST00000262186.9:c.1826A>C	ENSP00000262186.5:p.Asp609Ala
ENST00000330883.8:c.806A>C	ENSP00000328531.4:p.Asp269Ala
ENST00000430723.4:c.1478A>C	ENSP00000387657.4:p.Asp493Ala
ENST00000461280.1:n.1113A>C
ENST00000473610.5:n.1131A>C
ENST00000532957.5:n.2049A>C
NM_000238.3:c.1826A>C , LRG_288t1:c.1826A>C	NP_000229.1:p.Asp609Ala
NM_001204798.1:c.806A>C	NP_001191727.1:p.Asp269Ala
NM_172056.2:c.1826A>C , LRG_288t2:c.1826A>C	NP_742053.1:p.Asp609Ala
NM_172057.2:c.806A>C , LRG_288t3:c.806A>C	NP_742054.1:p.Asp269Ala
XM_011516185.1:c.1526A>C	XP_011514487.1:p.Asp509Ala
XM_011516186.1:c.1826A>C	XP_011514488.1:p.Asp609Ala
XM_011516185.2:c.1526A>C	XP_011514487.1:p.Asp509Ala
XM_011516186.3:c.1826A>C	XP_011514488.1:p.Asp609Ala
XM_017012195.1:c.1676A>C	XP_016867684.1:p.Asp559Ala
XM_017012196.1:c.1649A>C	XP_016867685.1:p.Asp550Ala
NM_000238.4:c.1826A>C MANE Select	NP_000229.1:p.Asp609Ala
NM_001204798.2:c.806A>C	NP_001191727.1:p.Asp269Ala
NM_172057.3:c.806A>C	NP_742054.1:p.Asp269Ala