Canonical Allele Identifier: CA369861644

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 942831
• ClinVar RCV Id: RCV001212897
• dbSNP Id: rs1801410026
• COSMIC: COSM4883131 ; COSM4883132
• MyVariant Identifiers: chr7:g.150654490G>C (hg19) ; chr7:g.150957402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957402G>C , CM000669.2:g.150957402G>C	GRCh38
NC_000007.13:g.150654490G>C , CM000669.1:g.150654490G>C	GRCh37
NC_000007.12:g.150285423G>C	NCBI36
NG_008916.1:g.25525C>G , LRG_288:g.25525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1850C>G
ENST00000262186.10:c.1017C>G MANE Select	ENSP00000262186.5:p.Asn339Lys
ENST00000262186.9:c.1017C>G	ENSP00000262186.5:p.Asn339Lys
ENST00000430723.4:c.669C>G	ENSP00000387657.4:p.Asn223Lys
ENST00000532957.5:n.1240C>G
NM_000238.3:c.1017C>G , LRG_288t1:c.1017C>G	NP_000229.1:p.Asn339Lys
NM_172056.2:c.1017C>G , LRG_288t2:c.1017C>G	NP_742053.1:p.Asn339Lys
XM_011516185.1:c.717C>G	XP_011514487.1:p.Asn239Lys
XM_011516186.1:c.1017C>G	XP_011514488.1:p.Asn339Lys
XM_011516185.2:c.717C>G	XP_011514487.1:p.Asn239Lys
XM_011516186.3:c.1017C>G	XP_011514488.1:p.Asn339Lys
XM_017012195.1:c.867C>G	XP_016867684.1:p.Asn289Lys
XM_017012196.1:c.840C>G	XP_016867685.1:p.Asn280Lys
NM_000238.4:c.1017C>G MANE Select	NP_000229.1:p.Asn339Lys