Canonical Allele Identifier: CA007025

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200473
• ClinVar RCV Id: RCV000181877 ; RCV000498950 ; RCV001842829 ; RCV001852293 ; RCV003165387 ; RCV002500534
• dbSNP Id: rs763031434
• ExAC: 7:150645618 G / A
• gnomAD v2: 7-150645618-G-A
• gnomAD v3: 7-150948530-G-A
• gnomAD v4: 7-150948530-G-A
• MyVariant Identifiers: chr7:g.150645618G>A (hg19) ; chr7:g.150948530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948530G>A , CM000669.2:g.150948530G>A	GRCh38
NC_000007.13:g.150645618G>A , CM000669.1:g.150645618G>A	GRCh37
NC_000007.12:g.150276551G>A	NCBI36
NG_008916.1:g.34397C>T , LRG_288:g.34397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3439C>T
ENST00000262186.10:c.2606C>T MANE Select	ENSP00000262186.5:p.Pro869Leu
ENST00000330883.9:c.1586C>T	ENSP00000328531.4:p.Pro529Leu
ENST00000262186.9:c.2606C>T	ENSP00000262186.5:p.Pro869Leu
ENST00000330883.8:c.1586C>T	ENSP00000328531.4:p.Pro529Leu
NM_000238.3:c.2606C>T , LRG_288t1:c.2606C>T	NP_000229.1:p.Pro869Leu
NM_172057.2:c.1586C>T , LRG_288t3:c.1586C>T	NP_742054.1:p.Pro529Leu
XM_011516185.1:c.2306C>T	XP_011514487.1:p.Pro769Leu
XM_011516186.1:c.2606C>T	XP_011514488.1:p.Pro869Leu
XM_011516185.2:c.2306C>T	XP_011514487.1:p.Pro769Leu
XM_011516186.3:c.2606C>T	XP_011514488.1:p.Pro869Leu
XM_017012195.1:c.2456C>T	XP_016867684.1:p.Pro819Leu
XM_017012196.1:c.2429C>T	XP_016867685.1:p.Pro810Leu
NM_000238.4:c.2606C>T MANE Select	NP_000229.1:p.Pro869Leu
NM_172057.3:c.1586C>T	NP_742054.1:p.Pro529Leu