Canonical Allele Identifier: CA369865652

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671910A>T (hg19) ; chr7:g.150974822A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974822A>T , CM000669.2:g.150974822A>T	GRCh38
NC_000007.13:g.150671910A>T , CM000669.1:g.150671910A>T	GRCh37
NC_000007.12:g.150302843A>T	NCBI36
NG_008916.1:g.8105T>A , LRG_288:g.8105T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.196T>A MANE Select	ENSP00000262186.5:p.Cys66Ser
ENST00000262186.9:c.196T>A	ENSP00000262186.5:p.Cys66Ser
ENST00000430723.4:c.19T>A	ENSP00000387657.4:p.Cys7Ser
ENST00000532957.5:n.419T>A
NM_000238.3:c.196T>A , LRG_288t1:c.196T>A	NP_000229.1:p.Cys66Ser
NM_172056.2:c.196T>A , LRG_288t2:c.196T>A	NP_742053.1:p.Cys66Ser
XM_011516186.1:c.196T>A	XP_011514488.1:p.Cys66Ser
XM_011516186.3:c.196T>A	XP_011514488.1:p.Cys66Ser
XM_017012196.1:c.19T>A	XP_016867685.1:p.Cys7Ser
NM_000238.4:c.196T>A MANE Select	NP_000229.1:p.Cys66Ser