Canonical Allele Identifier: CA369855260

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646089C>T (hg19) ; chr7:g.150949001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949001C>T , CM000669.2:g.150949001C>T	GRCh38
NC_000007.13:g.150646089C>T , CM000669.1:g.150646089C>T	GRCh37
NC_000007.12:g.150277022C>T	NCBI36
NG_008916.1:g.33926G>A , LRG_288:g.33926G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3280G>A
ENST00000262186.10:c.2447G>A MANE Select	ENSP00000262186.5:p.Gly816Asp
ENST00000330883.9:c.1427G>A	ENSP00000328531.4:p.Gly476Asp
ENST00000262186.9:c.2447G>A	ENSP00000262186.5:p.Gly816Asp
ENST00000330883.8:c.1427G>A	ENSP00000328531.4:p.Gly476Asp
NM_000238.3:c.2447G>A , LRG_288t1:c.2447G>A	NP_000229.1:p.Gly816Asp
NM_172057.2:c.1427G>A , LRG_288t3:c.1427G>A	NP_742054.1:p.Gly476Asp
XM_011516185.1:c.2147G>A	XP_011514487.1:p.Gly716Asp
XM_011516186.1:c.2447G>A	XP_011514488.1:p.Gly816Asp
XM_011516185.2:c.2147G>A	XP_011514487.1:p.Gly716Asp
XM_011516186.3:c.2447G>A	XP_011514488.1:p.Gly816Asp
XM_017012195.1:c.2297G>A	XP_016867684.1:p.Gly766Asp
XM_017012196.1:c.2270G>A	XP_016867685.1:p.Gly757Asp
NM_000238.4:c.2447G>A MANE Select	NP_000229.1:p.Gly816Asp
NM_172057.3:c.1427G>A	NP_742054.1:p.Gly476Asp