Canonical Allele Identifier: CA369861645

Gene: KCNH2

Linked Data

• COSMIC: COSM1087296 ; COSM1596872
• MyVariant Identifiers: chr7:g.150654490G>T (hg19) ; chr7:g.150957402G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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