Canonical Allele Identifier: CA369855403

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646137C>A (hg19) ; chr7:g.150949049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949049C>A , CM000669.2:g.150949049C>A	GRCh38
NC_000007.13:g.150646137C>A , CM000669.1:g.150646137C>A	GRCh37
NC_000007.12:g.150277070C>A	NCBI36
NG_008916.1:g.33878G>T , LRG_288:g.33878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232G>T
ENST00000262186.10:c.2399G>T MANE Select	ENSP00000262186.5:p.Gly800Val
ENST00000330883.9:c.1379G>T	ENSP00000328531.4:p.Gly460Val
ENST00000262186.9:c.2399G>T	ENSP00000262186.5:p.Gly800Val
ENST00000330883.8:c.1379G>T	ENSP00000328531.4:p.Gly460Val
NM_000238.3:c.2399G>T , LRG_288t1:c.2399G>T	NP_000229.1:p.Gly800Val
NM_172057.2:c.1379G>T , LRG_288t3:c.1379G>T	NP_742054.1:p.Gly460Val
XM_011516185.1:c.2099G>T	XP_011514487.1:p.Gly700Val
XM_011516186.1:c.2399G>T	XP_011514488.1:p.Gly800Val
XM_011516185.2:c.2099G>T	XP_011514487.1:p.Gly700Val
XM_011516186.3:c.2399G>T	XP_011514488.1:p.Gly800Val
XM_017012195.1:c.2249G>T	XP_016867684.1:p.Gly750Val
XM_017012196.1:c.2222G>T	XP_016867685.1:p.Gly741Val
NM_000238.4:c.2399G>T MANE Select	NP_000229.1:p.Gly800Val
NM_172057.3:c.1379G>T	NP_742054.1:p.Gly460Val