Canonical Allele Identifier: CA369853819

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645595A>T (hg19) ; chr7:g.150948507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948507A>T , CM000669.2:g.150948507A>T	GRCh38
NC_000007.13:g.150645595A>T , CM000669.1:g.150645595A>T	GRCh37
NC_000007.12:g.150276528A>T	NCBI36
NG_008916.1:g.34420T>A , LRG_288:g.34420T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3462T>A
ENST00000262186.10:c.2629T>A MANE Select	ENSP00000262186.5:p.Leu877Ile
ENST00000330883.9:c.1609T>A	ENSP00000328531.4:p.Leu537Ile
ENST00000262186.9:c.2629T>A	ENSP00000262186.5:p.Leu877Ile
ENST00000330883.8:c.1609T>A	ENSP00000328531.4:p.Leu537Ile
NM_000238.3:c.2629T>A , LRG_288t1:c.2629T>A	NP_000229.1:p.Leu877Ile
NM_172057.2:c.1609T>A , LRG_288t3:c.1609T>A	NP_742054.1:p.Leu537Ile
XM_011516185.1:c.2329T>A	XP_011514487.1:p.Leu777Ile
XM_011516186.1:c.2629T>A	XP_011514488.1:p.Leu877Ile
XM_011516185.2:c.2329T>A	XP_011514487.1:p.Leu777Ile
XM_011516186.3:c.2629T>A	XP_011514488.1:p.Leu877Ile
XM_017012195.1:c.2479T>A	XP_016867684.1:p.Leu827Ile
XM_017012196.1:c.2452T>A	XP_016867685.1:p.Leu818Ile
NM_000238.4:c.2629T>A MANE Select	NP_000229.1:p.Leu877Ile
NM_172057.3:c.1609T>A	NP_742054.1:p.Leu537Ile