Canonical Allele Identifier: CA007690

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67456
• ClinVar RCV Id: RCV001841736
• dbSNP Id: rs199473541
• gnomAD v2: 7-150644705-T-C
• gnomAD v3: 7-150947617-T-C
• gnomAD v4: 7-150947617-T-C
• MyVariant Identifiers: chr7:g.150644705T>C (hg19) ; chr7:g.150947617T>C (hg38)
• PubMed: PMID:16043162 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947617T>C , CM000669.2:g.150947617T>C	GRCh38
NC_000007.13:g.150644705T>C , CM000669.1:g.150644705T>C	GRCh37
NC_000007.12:g.150275638T>C	NCBI36
NG_008916.1:g.35310A>G , LRG_288:g.35310A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3787A>G
ENST00000262186.10:c.2954A>G MANE Select	ENSP00000262186.5:p.Asn985Ser
ENST00000330883.9:c.1934A>G	ENSP00000328531.4:p.Asn645Ser
ENST00000262186.9:c.2954A>G	ENSP00000262186.5:p.Asn985Ser
ENST00000330883.8:c.1934A>G	ENSP00000328531.4:p.Asn645Ser
NM_000238.3:c.2954A>G , LRG_288t1:c.2954A>G	NP_000229.1:p.Asn985Ser
NM_172057.2:c.1934A>G , LRG_288t3:c.1934A>G	NP_742054.1:p.Asn645Ser
XM_011516185.1:c.2654A>G	XP_011514487.1:p.Asn885Ser
XM_011516186.1:c.*34A>G	XP_011514488.1:n.*34A>G
XM_011516185.2:c.2654A>G	XP_011514487.1:p.Asn885Ser
XM_011516186.3:c.*34A>G	XP_011514488.1:n.*34A>G
XM_017012195.1:c.2804A>G	XP_016867684.1:p.Asn935Ser
XM_017012196.1:c.2777A>G	XP_016867685.1:p.Asn926Ser
NM_000238.4:c.2954A>G MANE Select	NP_000229.1:p.Asn985Ser
NM_172057.3:c.1934A>G	NP_742054.1:p.Asn645Ser