Canonical Allele Identifier: CA369855038

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646034A>T (hg19) ; chr7:g.150948946A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948946A>T , CM000669.2:g.150948946A>T	GRCh38
NC_000007.13:g.150646034A>T , CM000669.1:g.150646034A>T	GRCh37
NC_000007.12:g.150276967A>T	NCBI36
NG_008916.1:g.33981T>A , LRG_288:g.33981T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3335T>A
ENST00000262186.10:c.2502T>A MANE Select	ENSP00000262186.5:p.His834Gln
ENST00000330883.9:c.1482T>A	ENSP00000328531.4:p.His494Gln
ENST00000262186.9:c.2502T>A	ENSP00000262186.5:p.His834Gln
ENST00000330883.8:c.1482T>A	ENSP00000328531.4:p.His494Gln
NM_000238.3:c.2502T>A , LRG_288t1:c.2502T>A	NP_000229.1:p.His834Gln
NM_172057.2:c.1482T>A , LRG_288t3:c.1482T>A	NP_742054.1:p.His494Gln
XM_011516185.1:c.2202T>A	XP_011514487.1:p.His734Gln
XM_011516186.1:c.2502T>A	XP_011514488.1:p.His834Gln
XM_011516185.2:c.2202T>A	XP_011514487.1:p.His734Gln
XM_011516186.3:c.2502T>A	XP_011514488.1:p.His834Gln
XM_017012195.1:c.2352T>A	XP_016867684.1:p.His784Gln
XM_017012196.1:c.2325T>A	XP_016867685.1:p.His775Gln
NM_000238.4:c.2502T>A MANE Select	NP_000229.1:p.His834Gln
NM_172057.3:c.1482T>A	NP_742054.1:p.His494Gln