Canonical Allele Identifier: CA2607120

Gene: RHO

Linked Data

• ClinVar Variation Id: 343275
• ClinVar RCV Id: RCV000350160 ; RCV000396600 ; RCV000968012
• dbSNP Id: rs376995477
• ExAC: 3:129247946 CG / C
• gnomAD v2: 3-129247946-CG-C
• gnomAD v3: 3-129529103-CG-C
• gnomAD v4: 3-129529103-CG-C
• MyVariant Identifiers: chr3:g.129247949del (hg19) ; chr3:g.129247947del (hg19) ; chr3:g.129529106del (hg38) ; chr3:g.129529105del (hg38) ; chr3:g.129529104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529106del , CM000665.2:g.129529106del	GRCh38
NC_000003.11:g.129247949del , CM000665.1:g.129247949del	GRCh37
NC_000003.10:g.130730639del	NCBI36
NG_009115.1:g.5468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.361+12del MANE Select	ENSP00000296271.3:n.361+12del
ENST00000296271.3:c.361+12del	ENSP00000296271.3:n.361+12del
NM_000539.3:c.361+12del MANE Select	NP_000530.1:n.361+12del