Canonical Allele Identifier: CA458644811

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1952522
• ClinVar RCV Id: RCV002671782
• gnomAD v4: 7-150947354-C-T
• MyVariant Identifiers: chr7:g.150644442C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947354C>T , CM000669.2:g.150947354C>T	GRCh38
NC_000007.13:g.150644442C>T , CM000669.1:g.150644442C>T	GRCh37
NC_000007.12:g.150275375C>T	NCBI36
NG_008916.1:g.35573G>A , LRG_288:g.35573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3959G>A
ENST00000262186.10:c.3126G>A MANE Select	ENSP00000262186.5:p.Leu1042=
ENST00000330883.9:c.2106G>A	ENSP00000328531.4:p.Leu702=
ENST00000262186.9:c.3126G>A	ENSP00000262186.5:p.Leu1042=
ENST00000330883.8:c.2106G>A	ENSP00000328531.4:p.Leu702=
NM_000238.3:c.3126G>A , LRG_288t1:c.3126G>A	NP_000229.1:p.Leu1042=
NM_172057.2:c.2106G>A , LRG_288t3:c.2106G>A	NP_742054.1:p.Leu702=
XM_011516185.1:c.2826G>A	XP_011514487.1:p.Leu942=
XM_011516185.2:c.2826G>A	XP_011514487.1:p.Leu942=
XM_017012195.1:c.2976G>A	XP_016867684.1:p.Leu992=
XM_017012196.1:c.2949G>A	XP_016867685.1:p.Leu983=
NM_000238.4:c.3126G>A MANE Select	NP_000229.1:p.Leu1042=
NM_172057.3:c.2106G>A	NP_742054.1:p.Leu702=