Canonical Allele Identifier: CA369855258

Gene: KCNH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3280G>T
ENST00000262186.10:c.2447G>T MANE Select	ENSP00000262186.5:p.Gly816Val
ENST00000330883.9:c.1427G>T	ENSP00000328531.4:p.Gly476Val
ENST00000262186.9:c.2447G>T	ENSP00000262186.5:p.Gly816Val
ENST00000330883.8:c.1427G>T	ENSP00000328531.4:p.Gly476Val
NM_000238.3:c.2447G>T , LRG_288t1:c.2447G>T	NP_000229.1:p.Gly816Val
NM_172057.2:c.1427G>T , LRG_288t3:c.1427G>T	NP_742054.1:p.Gly476Val
XM_011516185.1:c.2147G>T	XP_011514487.1:p.Gly716Val
XM_011516186.1:c.2447G>T	XP_011514488.1:p.Gly816Val
XM_011516185.2:c.2147G>T	XP_011514487.1:p.Gly716Val
XM_011516186.3:c.2447G>T	XP_011514488.1:p.Gly816Val
XM_017012195.1:c.2297G>T	XP_016867684.1:p.Gly766Val
XM_017012196.1:c.2270G>T	XP_016867685.1:p.Gly757Val
NM_000238.4:c.2447G>T MANE Select	NP_000229.1:p.Gly816Val
NM_172057.3:c.1427G>T	NP_742054.1:p.Gly476Val