Canonical Allele Identifier: CA458871762

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1161335
• ClinVar RCV Id: RCV001505775
• dbSNP Id: rs1801931669
• MyVariant Identifiers: chr7:g.150671848C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974760C>G , CM000669.2:g.150974760C>G	GRCh38
NC_000007.13:g.150671848C>G , CM000669.1:g.150671848C>G	GRCh37
NC_000007.12:g.150302781C>G	NCBI36
NG_008916.1:g.8167G>C , LRG_288:g.8167G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.258G>C MANE Select	ENSP00000262186.5:p.Leu86=
ENST00000262186.9:c.258G>C	ENSP00000262186.5:p.Leu86=
ENST00000430723.4:c.81G>C	ENSP00000387657.4:p.Leu27=
ENST00000532957.5:n.481G>C
NM_000238.3:c.258G>C , LRG_288t1:c.258G>C	NP_000229.1:p.Leu86=
NM_172056.2:c.258G>C , LRG_288t2:c.258G>C	NP_742053.1:p.Leu86=
XM_011516186.1:c.258G>C	XP_011514488.1:p.Leu86=
XM_011516186.3:c.258G>C	XP_011514488.1:p.Leu86=
XM_017012196.1:c.81G>C	XP_016867685.1:p.Leu27=
NM_000238.4:c.258G>C MANE Select	NP_000229.1:p.Leu86=