Canonical Allele Identifier: CA458871723

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1260026
• ClinVar RCV Id: RCV001666943 ; RCV002073135
• dbSNP Id: rs2117062260
• gnomAD v4: 7-150974730-G-A
• MyVariant Identifiers: chr7:g.150671818G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974730G>A , CM000669.2:g.150974730G>A	GRCh38
NC_000007.13:g.150671818G>A , CM000669.1:g.150671818G>A	GRCh37
NC_000007.12:g.150302751G>A	NCBI36
NG_008916.1:g.8197C>T , LRG_288:g.8197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.288C>T MANE Select	ENSP00000262186.5:p.Ile96=
ENST00000262186.9:c.288C>T	ENSP00000262186.5:p.Ile96=
ENST00000430723.4:c.111C>T	ENSP00000387657.4:p.Ile37=
ENST00000532957.5:n.511C>T
NM_000238.3:c.288C>T , LRG_288t1:c.288C>T	NP_000229.1:p.Ile96=
NM_172056.2:c.288C>T , LRG_288t2:c.288C>T	NP_742053.1:p.Ile96=
XM_011516186.1:c.288C>T	XP_011514488.1:p.Ile96=
XM_011516186.3:c.288C>T	XP_011514488.1:p.Ile96=
XM_017012196.1:c.111C>T	XP_016867685.1:p.Ile37=
NM_000238.4:c.288C>T MANE Select	NP_000229.1:p.Ile96=