Canonical Allele Identifier: CA369865283

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671804T>A (hg19) ; chr7:g.150974716T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974716T>A , CM000669.2:g.150974716T>A	GRCh38
NC_000007.13:g.150671804T>A , CM000669.1:g.150671804T>A	GRCh37
NC_000007.12:g.150302737T>A	NCBI36
NG_008916.1:g.8211A>T , LRG_288:g.8211A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.302A>T MANE Select	ENSP00000262186.5:p.Lys101Ile
ENST00000262186.9:c.302A>T	ENSP00000262186.5:p.Lys101Ile
ENST00000430723.4:c.125A>T	ENSP00000387657.4:p.Lys42Ile
ENST00000532957.5:n.525A>T
NM_000238.3:c.302A>T , LRG_288t1:c.302A>T	NP_000229.1:p.Lys101Ile
NM_172056.2:c.302A>T , LRG_288t2:c.302A>T	NP_742053.1:p.Lys101Ile
XM_011516186.1:c.302A>T	XP_011514488.1:p.Lys101Ile
XM_011516186.3:c.302A>T	XP_011514488.1:p.Lys101Ile
XM_017012196.1:c.125A>T	XP_016867685.1:p.Lys42Ile
NM_000238.4:c.302A>T MANE Select	NP_000229.1:p.Lys101Ile