Canonical Allele Identifier: CA458871572

Gene: KCNH2

Linked Data

• dbSNP Id: rs1438092503
• MyVariant Identifiers: chr7:g.150648750T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951662T>C , CM000669.2:g.150951662T>C	GRCh38
NC_000007.13:g.150648750T>C , CM000669.1:g.150648750T>C	GRCh37
NC_000007.12:g.150279683T>C	NCBI36
NG_008916.1:g.31265A>G , LRG_288:g.31265A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1029A>G
ENST00000684241.1:n.2564A>G
ENST00000262186.10:c.1731A>G MANE Select	ENSP00000262186.5:p.Pro577=
ENST00000330883.9:c.711A>G	ENSP00000328531.4:p.Pro237=
ENST00000262186.9:c.1731A>G	ENSP00000262186.5:p.Pro577=
ENST00000330883.8:c.711A>G	ENSP00000328531.4:p.Pro237=
ENST00000430723.4:c.1383A>G	ENSP00000387657.4:p.Pro461=
ENST00000461280.1:n.1018A>G
ENST00000473610.5:n.1036A>G
ENST00000532957.5:n.1954A>G
NM_000238.3:c.1731A>G , LRG_288t1:c.1731A>G	NP_000229.1:p.Pro577=
NM_001204798.1:c.711A>G	NP_001191727.1:p.Pro237=
NM_172056.2:c.1731A>G , LRG_288t2:c.1731A>G	NP_742053.1:p.Pro577=
NM_172057.2:c.711A>G , LRG_288t3:c.711A>G	NP_742054.1:p.Pro237=
XM_011516185.1:c.1431A>G	XP_011514487.1:p.Pro477=
XM_011516186.1:c.1731A>G	XP_011514488.1:p.Pro577=
XM_011516185.2:c.1431A>G	XP_011514487.1:p.Pro477=
XM_011516186.3:c.1731A>G	XP_011514488.1:p.Pro577=
XM_017012195.1:c.1581A>G	XP_016867684.1:p.Pro527=
XM_017012196.1:c.1554A>G	XP_016867685.1:p.Pro518=
NM_000238.4:c.1731A>G MANE Select	NP_000229.1:p.Pro577=
NM_001204798.2:c.711A>G	NP_001191727.1:p.Pro237=
NM_172057.3:c.711A>G	NP_742054.1:p.Pro237=