Canonical Allele Identifier: CA369856028

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647285A>C (hg19) ; chr7:g.150950197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950197A>C , CM000669.2:g.150950197A>C	GRCh38
NC_000007.13:g.150647285A>C , CM000669.1:g.150647285A>C	GRCh37
NC_000007.12:g.150278218A>C	NCBI36
NG_008916.1:g.32730T>G , LRG_288:g.32730T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1667T>G
ENST00000684241.1:n.3202T>G
ENST00000262186.10:c.2369T>G MANE Select	ENSP00000262186.5:p.Leu790Arg
ENST00000330883.9:c.1349T>G	ENSP00000328531.4:p.Leu450Arg
ENST00000262186.9:c.2369T>G	ENSP00000262186.5:p.Leu790Arg
ENST00000330883.8:c.1349T>G	ENSP00000328531.4:p.Leu450Arg
ENST00000430723.4:c.2021T>G	ENSP00000387657.4:p.Leu674Arg
ENST00000461280.1:n.1656T>G
ENST00000473610.5:n.2001T>G
ENST00000532957.5:n.2592T>G
NM_000238.3:c.2369T>G , LRG_288t1:c.2369T>G	NP_000229.1:p.Leu790Arg
NM_001204798.1:c.1349T>G	NP_001191727.1:p.Leu450Arg
NM_172056.2:c.2369T>G , LRG_288t2:c.2369T>G	NP_742053.1:p.Leu790Arg
NM_172057.2:c.1349T>G , LRG_288t3:c.1349T>G	NP_742054.1:p.Leu450Arg
XM_011516185.1:c.2069T>G	XP_011514487.1:p.Leu690Arg
XM_011516186.1:c.2369T>G	XP_011514488.1:p.Leu790Arg
XM_011516185.2:c.2069T>G	XP_011514487.1:p.Leu690Arg
XM_011516186.3:c.2369T>G	XP_011514488.1:p.Leu790Arg
XM_017012195.1:c.2219T>G	XP_016867684.1:p.Leu740Arg
XM_017012196.1:c.2192T>G	XP_016867685.1:p.Leu731Arg
NM_000238.4:c.2369T>G MANE Select	NP_000229.1:p.Leu790Arg
NM_001204798.2:c.1349T>G	NP_001191727.1:p.Leu450Arg
NM_172057.3:c.1349T>G	NP_742054.1:p.Leu450Arg