Canonical Allele Identifier: CA033587

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 925591
• ClinVar RCV Id: RCV001219456 ; RCV001572412 ; RCV001841005 ; RCV002429829 ; RCV002497655
• dbSNP Id: rs201765446
• ExAC: 7:150645577 G / A
• gnomAD v2: 7-150645577-G-A
• gnomAD v3: 7-150948489-G-A
• gnomAD v4: 7-150948489-G-A
• MyVariant Identifiers: chr7:g.150645577G>A (hg19) ; chr7:g.150948489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948489G>A , CM000669.2:g.150948489G>A	GRCh38
NC_000007.13:g.150645577G>A , CM000669.1:g.150645577G>A	GRCh37
NC_000007.12:g.150276510G>A	NCBI36
NG_008916.1:g.34438C>T , LRG_288:g.34438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3480C>T
ENST00000262186.10:c.2647C>T MANE Select	ENSP00000262186.5:p.Arg883Trp
ENST00000330883.9:c.1627C>T	ENSP00000328531.4:p.Arg543Trp
ENST00000262186.9:c.2647C>T	ENSP00000262186.5:p.Arg883Trp
ENST00000330883.8:c.1627C>T	ENSP00000328531.4:p.Arg543Trp
NM_000238.3:c.2647C>T , LRG_288t1:c.2647C>T	NP_000229.1:p.Arg883Trp
NM_172057.2:c.1627C>T , LRG_288t3:c.1627C>T	NP_742054.1:p.Arg543Trp
XM_011516185.1:c.2347C>T	XP_011514487.1:p.Arg783Trp
XM_011516186.1:c.2647C>T	XP_011514488.1:p.Arg883Trp
XM_011516185.2:c.2347C>T	XP_011514487.1:p.Arg783Trp
XM_011516186.3:c.2647C>T	XP_011514488.1:p.Arg883Trp
XM_017012195.1:c.2497C>T	XP_016867684.1:p.Arg833Trp
XM_017012196.1:c.2470C>T	XP_016867685.1:p.Arg824Trp
NM_000238.4:c.2647C>T MANE Select	NP_000229.1:p.Arg883Trp
NM_172057.3:c.1627C>T	NP_742054.1:p.Arg543Trp