Canonical Allele Identifier: CA369865838

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2136631
• ClinVar RCV Id: RCV003037273
• MyVariant Identifiers: chr7:g.150671971G>C (hg19) ; chr7:g.150974883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974883G>C , CM000669.2:g.150974883G>C	GRCh38
NC_000007.13:g.150671971G>C , CM000669.1:g.150671971G>C	GRCh37
NC_000007.12:g.150302904G>C	NCBI36
NG_008916.1:g.8044C>G , LRG_288:g.8044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.135C>G MANE Select	ENSP00000262186.5:p.Asn45Lys
ENST00000262186.9:c.135C>G	ENSP00000262186.5:p.Asn45Lys
ENST00000430723.4:c.-43C>G	ENSP00000387657.4:n.-43C>G
ENST00000532957.5:n.358C>G
NM_000238.3:c.135C>G , LRG_288t1:c.135C>G	NP_000229.1:p.Asn45Lys
NM_172056.2:c.135C>G , LRG_288t2:c.135C>G	NP_742053.1:p.Asn45Lys
XM_011516186.1:c.135C>G	XP_011514488.1:p.Asn45Lys
XM_011516186.3:c.135C>G	XP_011514488.1:p.Asn45Lys
XM_017012196.1:c.-43C>G	XP_016867685.1:n.-43C>G
NM_000238.4:c.135C>G MANE Select	NP_000229.1:p.Asn45Lys