Canonical Allele Identifier: CA353893

Gene: KCNH2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951519A>G , CM000669.2:g.150951519A>G	GRCh38
NC_000007.13:g.150648607A>G , CM000669.1:g.150648607A>G	GRCh37
NC_000007.12:g.150279540A>G	NCBI36
NG_008916.1:g.31408T>C , LRG_288:g.31408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1172T>C
ENST00000684241.1:n.2707T>C
ENST00000262186.10:c.1874T>C MANE Select	ENSP00000262186.5:p.Val625Ala
ENST00000330883.9:c.854T>C	ENSP00000328531.4:p.Val285Ala
ENST00000262186.9:c.1874T>C	ENSP00000262186.5:p.Val625Ala
ENST00000330883.8:c.854T>C	ENSP00000328531.4:p.Val285Ala
ENST00000430723.4:c.1526T>C	ENSP00000387657.4:p.Val509Ala
ENST00000461280.1:n.1161T>C
ENST00000473610.5:n.1179T>C
ENST00000532957.5:n.2097T>C
NM_000238.3:c.1874T>C , LRG_288t1:c.1874T>C	NP_000229.1:p.Val625Ala
NM_001204798.1:c.854T>C	NP_001191727.1:p.Val285Ala
NM_172056.2:c.1874T>C , LRG_288t2:c.1874T>C	NP_742053.1:p.Val625Ala
NM_172057.2:c.854T>C , LRG_288t3:c.854T>C	NP_742054.1:p.Val285Ala
XM_011516185.1:c.1574T>C	XP_011514487.1:p.Val525Ala
XM_011516186.1:c.1874T>C	XP_011514488.1:p.Val625Ala
XM_011516185.2:c.1574T>C	XP_011514487.1:p.Val525Ala
XM_011516186.3:c.1874T>C	XP_011514488.1:p.Val625Ala
XM_017012195.1:c.1724T>C	XP_016867684.1:p.Val575Ala
XM_017012196.1:c.1697T>C	XP_016867685.1:p.Val566Ala
NM_000238.4:c.1874T>C MANE Select	NP_000229.1:p.Val625Ala
NM_001204798.2:c.854T>C	NP_001191727.1:p.Val285Ala
NM_172057.3:c.854T>C	NP_742054.1:p.Val285Ala