Canonical Allele Identifier: CA369861857

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1800478
• ClinVar RCV Id: RCV002461617
• MyVariant Identifiers: chr7:g.150654560A>C (hg19) ; chr7:g.150957472A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957472A>C , CM000669.2:g.150957472A>C	GRCh38
NC_000007.13:g.150654560A>C , CM000669.1:g.150654560A>C	GRCh37
NC_000007.12:g.150285493A>C	NCBI36
NG_008916.1:g.25455T>G , LRG_288:g.25455T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1780T>G
ENST00000262186.10:c.947T>G MANE Select	ENSP00000262186.5:p.Leu316Arg
ENST00000262186.9:c.947T>G	ENSP00000262186.5:p.Leu316Arg
ENST00000430723.4:c.599T>G	ENSP00000387657.4:p.Leu200Arg
ENST00000532957.5:n.1170T>G
NM_000238.3:c.947T>G , LRG_288t1:c.947T>G	NP_000229.1:p.Leu316Arg
NM_172056.2:c.947T>G , LRG_288t2:c.947T>G	NP_742053.1:p.Leu316Arg
XM_011516185.1:c.647T>G	XP_011514487.1:p.Leu216Arg
XM_011516186.1:c.947T>G	XP_011514488.1:p.Leu316Arg
XM_011516185.2:c.647T>G	XP_011514487.1:p.Leu216Arg
XM_011516186.3:c.947T>G	XP_011514488.1:p.Leu316Arg
XM_017012195.1:c.797T>G	XP_016867684.1:p.Leu266Arg
XM_017012196.1:c.770T>G	XP_016867685.1:p.Leu257Arg
NM_000238.4:c.947T>G MANE Select	NP_000229.1:p.Leu316Arg