Canonical Allele Identifier: CA369855209

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1916752
• ClinVar RCV Id: RCV002617014
• MyVariant Identifiers: chr7:g.150646078C>G (hg19) ; chr7:g.150948990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948990C>G , CM000669.2:g.150948990C>G	GRCh38
NC_000007.13:g.150646078C>G , CM000669.1:g.150646078C>G	GRCh37
NC_000007.12:g.150277011C>G	NCBI36
NG_008916.1:g.33937G>C , LRG_288:g.33937G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3291G>C
ENST00000262186.10:c.2458G>C MANE Select	ENSP00000262186.5:p.Gly820Arg
ENST00000330883.9:c.1438G>C	ENSP00000328531.4:p.Gly480Arg
ENST00000262186.9:c.2458G>C	ENSP00000262186.5:p.Gly820Arg
ENST00000330883.8:c.1438G>C	ENSP00000328531.4:p.Gly480Arg
NM_000238.3:c.2458G>C , LRG_288t1:c.2458G>C	NP_000229.1:p.Gly820Arg
NM_172057.2:c.1438G>C , LRG_288t3:c.1438G>C	NP_742054.1:p.Gly480Arg
XM_011516185.1:c.2158G>C	XP_011514487.1:p.Gly720Arg
XM_011516186.1:c.2458G>C	XP_011514488.1:p.Gly820Arg
XM_011516185.2:c.2158G>C	XP_011514487.1:p.Gly720Arg
XM_011516186.3:c.2458G>C	XP_011514488.1:p.Gly820Arg
XM_017012195.1:c.2308G>C	XP_016867684.1:p.Gly770Arg
XM_017012196.1:c.2281G>C	XP_016867685.1:p.Gly761Arg
NM_000238.4:c.2458G>C MANE Select	NP_000229.1:p.Gly820Arg
NM_172057.3:c.1438G>C	NP_742054.1:p.Gly480Arg