Canonical Allele Identifier: CA369863892

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656807G>T (hg19) ; chr7:g.150959719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959719G>T , CM000669.2:g.150959719G>T	GRCh38
NC_000007.13:g.150656807G>T , CM000669.1:g.150656807G>T	GRCh37
NC_000007.12:g.150287740G>T	NCBI36
NG_008916.1:g.23208C>A , LRG_288:g.23208C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1158C>A
ENST00000262186.10:c.325C>A MANE Select	ENSP00000262186.5:p.Leu109Met
ENST00000262186.9:c.325C>A	ENSP00000262186.5:p.Leu109Met
ENST00000430723.4:c.148C>A	ENSP00000387657.4:p.Leu50Met
ENST00000532957.5:n.548C>A
NM_000238.3:c.325C>A , LRG_288t1:c.325C>A	NP_000229.1:p.Leu109Met
NM_172056.2:c.325C>A , LRG_288t2:c.325C>A	NP_742053.1:p.Leu109Met
XM_011516185.1:c.25C>A	XP_011514487.1:p.Leu9Met
XM_011516186.1:c.325C>A	XP_011514488.1:p.Leu109Met
XM_011516185.2:c.25C>A	XP_011514487.1:p.Leu9Met
XM_011516186.3:c.325C>A	XP_011514488.1:p.Leu109Met
XM_017012195.1:c.175C>A	XP_016867684.1:p.Leu59Met
XM_017012196.1:c.148C>A	XP_016867685.1:p.Leu50Met
NM_000238.4:c.325C>A MANE Select	NP_000229.1:p.Leu109Met