Canonical Allele Identifier: CA458646988

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656807G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1158C>T
ENST00000262186.10:c.325C>T MANE Select	ENSP00000262186.5:p.Leu109=
ENST00000262186.9:c.325C>T	ENSP00000262186.5:p.Leu109=
ENST00000430723.4:c.148C>T	ENSP00000387657.4:p.Leu50=
ENST00000532957.5:n.548C>T
NM_000238.3:c.325C>T , LRG_288t1:c.325C>T	NP_000229.1:p.Leu109=
NM_172056.2:c.325C>T , LRG_288t2:c.325C>T	NP_742053.1:p.Leu109=
XM_011516185.1:c.25C>T	XP_011514487.1:p.Leu9=
XM_011516186.1:c.325C>T	XP_011514488.1:p.Leu109=
XM_011516185.2:c.25C>T	XP_011514487.1:p.Leu9=
XM_011516186.3:c.325C>T	XP_011514488.1:p.Leu109=
XM_017012195.1:c.175C>T	XP_016867684.1:p.Leu59=
XM_017012196.1:c.148C>T	XP_016867685.1:p.Leu50=
NM_000238.4:c.325C>T MANE Select	NP_000229.1:p.Leu109=