Canonical Allele Identifier: CA458871236

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647317C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950229C>G , CM000669.2:g.150950229C>G	GRCh38
NC_000007.13:g.150647317C>G , CM000669.1:g.150647317C>G	GRCh37
NC_000007.12:g.150278250C>G	NCBI36
NG_008916.1:g.32698G>C , LRG_288:g.32698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1635G>C
ENST00000684241.1:n.3170G>C
ENST00000262186.10:c.2337G>C MANE Select	ENSP00000262186.5:p.Leu779=
ENST00000330883.9:c.1317G>C	ENSP00000328531.4:p.Leu439=
ENST00000262186.9:c.2337G>C	ENSP00000262186.5:p.Leu779=
ENST00000330883.8:c.1317G>C	ENSP00000328531.4:p.Leu439=
ENST00000430723.4:c.1989G>C	ENSP00000387657.4:p.Leu663=
ENST00000461280.1:n.1624G>C
ENST00000473610.5:n.1969G>C
ENST00000532957.5:n.2560G>C
NM_000238.3:c.2337G>C , LRG_288t1:c.2337G>C	NP_000229.1:p.Leu779=
NM_001204798.1:c.1317G>C	NP_001191727.1:p.Leu439=
NM_172056.2:c.2337G>C , LRG_288t2:c.2337G>C	NP_742053.1:p.Leu779=
NM_172057.2:c.1317G>C , LRG_288t3:c.1317G>C	NP_742054.1:p.Leu439=
XM_011516185.1:c.2037G>C	XP_011514487.1:p.Leu679=
XM_011516186.1:c.2337G>C	XP_011514488.1:p.Leu779=
XM_011516185.2:c.2037G>C	XP_011514487.1:p.Leu679=
XM_011516186.3:c.2337G>C	XP_011514488.1:p.Leu779=
XM_017012195.1:c.2187G>C	XP_016867684.1:p.Leu729=
XM_017012196.1:c.2160G>C	XP_016867685.1:p.Leu720=
NM_000238.4:c.2337G>C MANE Select	NP_000229.1:p.Leu779=
NM_001204798.2:c.1317G>C	NP_001191727.1:p.Leu439=
NM_172057.3:c.1317G>C	NP_742054.1:p.Leu439=