Canonical Allele Identifier: CA008760

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 180380
• ClinVar RCV Id: RCV000157259 ; RCV003993839
• dbSNP Id: rs730880117
• gnomAD v2: 7-150655308-C-T
• gnomAD v3: 7-150958220-C-T
• gnomAD v4: 7-150958220-C-T
• MyVariant Identifiers: chr7:g.150655308C>T (hg19) ; chr7:g.150958220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958220C>T , CM000669.2:g.150958220C>T	GRCh38
NC_000007.13:g.150655308C>T , CM000669.1:g.150655308C>T	GRCh37
NC_000007.12:g.150286241C>T	NCBI36
NG_008916.1:g.24707G>A , LRG_288:g.24707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1588G>A
ENST00000262186.10:c.755G>A MANE Select	ENSP00000262186.5:p.Arg252Gln
ENST00000262186.9:c.755G>A	ENSP00000262186.5:p.Arg252Gln
ENST00000430723.4:c.407G>A	ENSP00000387657.4:p.Arg136Gln
ENST00000532957.5:n.978G>A
NM_000238.3:c.755G>A , LRG_288t1:c.755G>A	NP_000229.1:p.Arg252Gln
NM_172056.2:c.755G>A , LRG_288t2:c.755G>A	NP_742053.1:p.Arg252Gln
XM_011516185.1:c.455G>A	XP_011514487.1:p.Arg152Gln
XM_011516186.1:c.755G>A	XP_011514488.1:p.Arg252Gln
XM_011516185.2:c.455G>A	XP_011514487.1:p.Arg152Gln
XM_011516186.3:c.755G>A	XP_011514488.1:p.Arg252Gln
XM_017012195.1:c.605G>A	XP_016867684.1:p.Arg202Gln
XM_017012196.1:c.578G>A	XP_016867685.1:p.Arg193Gln
NM_000238.4:c.755G>A MANE Select	NP_000229.1:p.Arg252Gln