Canonical Allele Identifier: CA2607111

Gene: RHO

Linked Data

• ClinVar Variation Id: 1109422
• ClinVar RCV Id: RCV001435258
• dbSNP Id: rs781266982
• ExAC: 3:129247897 C / A
• gnomAD v2: 3-129247897-C-A
• gnomAD v3: 3-129529054-C-A
• gnomAD v4: 3-129529054-C-A
• MyVariant Identifiers: chr3:g.129247897C>A (hg19) ; chr3:g.129529054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529054C>A , CM000665.2:g.129529054C>A	GRCh38
NC_000003.11:g.129247897C>A , CM000665.1:g.129247897C>A	GRCh37
NC_000003.10:g.130730587C>A	NCBI36
NG_009115.1:g.5416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.321C>A MANE Select	ENSP00000296271.3:p.Pro107=
ENST00000296271.3:c.321C>A	ENSP00000296271.3:p.Pro107=
NM_000539.3:c.321C>A MANE Select	NP_000530.1:p.Pro107=