Canonical Allele Identifier: CA369855326

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801032512
• MyVariant Identifiers: chr7:g.150646104A>G (hg19) ; chr7:g.150949016A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949016A>G , CM000669.2:g.150949016A>G	GRCh38
NC_000007.13:g.150646104A>G , CM000669.1:g.150646104A>G	GRCh37
NC_000007.12:g.150277037A>G	NCBI36
NG_008916.1:g.33911T>C , LRG_288:g.33911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3265T>C
ENST00000262186.10:c.2432T>C MANE Select	ENSP00000262186.5:p.Leu811Pro
ENST00000330883.9:c.1412T>C	ENSP00000328531.4:p.Leu471Pro
ENST00000262186.9:c.2432T>C	ENSP00000262186.5:p.Leu811Pro
ENST00000330883.8:c.1412T>C	ENSP00000328531.4:p.Leu471Pro
NM_000238.3:c.2432T>C , LRG_288t1:c.2432T>C	NP_000229.1:p.Leu811Pro
NM_172057.2:c.1412T>C , LRG_288t3:c.1412T>C	NP_742054.1:p.Leu471Pro
XM_011516185.1:c.2132T>C	XP_011514487.1:p.Leu711Pro
XM_011516186.1:c.2432T>C	XP_011514488.1:p.Leu811Pro
XM_011516185.2:c.2132T>C	XP_011514487.1:p.Leu711Pro
XM_011516186.3:c.2432T>C	XP_011514488.1:p.Leu811Pro
XM_017012195.1:c.2282T>C	XP_016867684.1:p.Leu761Pro
XM_017012196.1:c.2255T>C	XP_016867685.1:p.Leu752Pro
NM_000238.4:c.2432T>C MANE Select	NP_000229.1:p.Leu811Pro
NM_172057.3:c.1412T>C	NP_742054.1:p.Leu471Pro