Canonical Allele Identifier: CA369853517

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644937A>C (hg19) ; chr7:g.150947849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947849A>C , CM000669.2:g.150947849A>C	GRCh38
NC_000007.13:g.150644937A>C , CM000669.1:g.150644937A>C	GRCh37
NC_000007.12:g.150275870A>C	NCBI36
NG_008916.1:g.35078T>G , LRG_288:g.35078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3555T>G
ENST00000262186.10:c.2722T>G MANE Select	ENSP00000262186.5:p.Leu908Val
ENST00000330883.9:c.1702T>G	ENSP00000328531.4:p.Leu568Val
ENST00000262186.9:c.2722T>G	ENSP00000262186.5:p.Leu908Val
ENST00000330883.8:c.1702T>G	ENSP00000328531.4:p.Leu568Val
NM_000238.3:c.2722T>G , LRG_288t1:c.2722T>G	NP_000229.1:p.Leu908Val
NM_172057.2:c.1702T>G , LRG_288t3:c.1702T>G	NP_742054.1:p.Leu568Val
XM_011516185.1:c.2422T>G	XP_011514487.1:p.Leu808Val
XM_011516186.1:c.2693-158T>G	XP_011514488.1:n.2693-158T>G
XM_011516185.2:c.2422T>G	XP_011514487.1:p.Leu808Val
XM_011516186.3:c.2693-158T>G	XP_011514488.1:n.2693-158T>G
XM_017012195.1:c.2572T>G	XP_016867684.1:p.Leu858Val
XM_017012196.1:c.2545T>G	XP_016867685.1:p.Leu849Val
NM_000238.4:c.2722T>G MANE Select	NP_000229.1:p.Leu908Val
NM_172057.3:c.1702T>G	NP_742054.1:p.Leu568Val