Canonical Allele Identifier: CA040960

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1332223
• ClinVar RCV Id: RCV001842189
• dbSNP Id: rs769368735
• ExAC: 7:150654578 G / A
• gnomAD v2: 7-150654578-G-A
• MyVariant Identifiers: chr7:g.150654578G>A (hg19) ; chr7:g.150957490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957490G>A , CM000669.2:g.150957490G>A	GRCh38
NC_000007.13:g.150654578G>A , CM000669.1:g.150654578G>A	GRCh37
NC_000007.12:g.150285511G>A	NCBI36
NG_008916.1:g.25437C>T , LRG_288:g.25437C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1762C>T
ENST00000262186.10:c.929C>T MANE Select	ENSP00000262186.5:p.Pro310Leu
ENST00000262186.9:c.929C>T	ENSP00000262186.5:p.Pro310Leu
ENST00000430723.4:c.581C>T	ENSP00000387657.4:p.Pro194Leu
ENST00000532957.5:n.1152C>T
NM_000238.3:c.929C>T , LRG_288t1:c.929C>T	NP_000229.1:p.Pro310Leu
NM_172056.2:c.929C>T , LRG_288t2:c.929C>T	NP_742053.1:p.Pro310Leu
XM_011516185.1:c.629C>T	XP_011514487.1:p.Pro210Leu
XM_011516186.1:c.929C>T	XP_011514488.1:p.Pro310Leu
XM_011516185.2:c.629C>T	XP_011514487.1:p.Pro210Leu
XM_011516186.3:c.929C>T	XP_011514488.1:p.Pro310Leu
XM_017012195.1:c.779C>T	XP_016867684.1:p.Pro260Leu
XM_017012196.1:c.752C>T	XP_016867685.1:p.Pro251Leu
NM_000238.4:c.929C>T MANE Select	NP_000229.1:p.Pro310Leu