Canonical Allele Identifier: CA369855290

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150949007-C-T
• MyVariant Identifiers: chr7:g.150646095C>T (hg19) ; chr7:g.150949007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949007C>T , CM000669.2:g.150949007C>T	GRCh38
NC_000007.13:g.150646095C>T , CM000669.1:g.150646095C>T	GRCh37
NC_000007.12:g.150277028C>T	NCBI36
NG_008916.1:g.33920G>A , LRG_288:g.33920G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3274G>A
ENST00000262186.10:c.2441G>A MANE Select	ENSP00000262186.5:p.Arg814Lys
ENST00000330883.9:c.1421G>A	ENSP00000328531.4:p.Arg474Lys
ENST00000262186.9:c.2441G>A	ENSP00000262186.5:p.Arg814Lys
ENST00000330883.8:c.1421G>A	ENSP00000328531.4:p.Arg474Lys
NM_000238.3:c.2441G>A , LRG_288t1:c.2441G>A	NP_000229.1:p.Arg814Lys
NM_172057.2:c.1421G>A , LRG_288t3:c.1421G>A	NP_742054.1:p.Arg474Lys
XM_011516185.1:c.2141G>A	XP_011514487.1:p.Arg714Lys
XM_011516186.1:c.2441G>A	XP_011514488.1:p.Arg814Lys
XM_011516185.2:c.2141G>A	XP_011514487.1:p.Arg714Lys
XM_011516186.3:c.2441G>A	XP_011514488.1:p.Arg814Lys
XM_017012195.1:c.2291G>A	XP_016867684.1:p.Arg764Lys
XM_017012196.1:c.2264G>A	XP_016867685.1:p.Arg755Lys
NM_000238.4:c.2441G>A MANE Select	NP_000229.1:p.Arg814Lys
NM_172057.3:c.1421G>A	NP_742054.1:p.Arg474Lys