Canonical Allele Identifier: CA4213711

Gene: RP9

Linked Data

• ClinVar Variation Id: 2991429
• ClinVar RCV Id: RCV003850092
• dbSNP Id: rs759717912
• ExAC: 7:33136085 T / C
• gnomAD v2: 7-33136085-T-C
• gnomAD v3: 7-33096473-T-C
• gnomAD v4: 7-33096473-T-C
• MyVariant Identifiers: chr7:g.33136085T>C (hg19) ; chr7:g.33136085_33136088delinsCATC (hg19) ; chr7:g.33096473T>C (hg38) ; chr7:g.33096473_33096476delinsCATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096473T>C , CM000669.2:g.33096473T>C	GRCh38
NC_000007.13:g.33136085T>C , CM000669.1:g.33136085T>C	GRCh37
NC_000007.12:g.33102610T>C	NCBI36
NG_012968.1:g.17918A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2440+20A>G
ENST00000492391.2:n.1591+20A>G
ENST00000682645.1:n.3538+20A>G
ENST00000683432.1:c.*642+20A>G	ENSP00000508174.1:n.*642+20A>G
ENST00000684207.1:c.*16A>G	ENSP00000506942.1:n.*16A>G
ENST00000297157.8:c.467+20A>G MANE Select	ENSP00000297157.3:n.467+20A>G
ENST00000297157.7:c.467+20A>G	ENSP00000297157.3:n.467+20A>G
ENST00000448915.1:c.365+20A>G	ENSP00000411577.1:n.365+20A>G
NM_203288.1:c.467+20A>G	NP_976033.1:n.467+20A>G
XM_011515468.1:c.365+20A>G	XP_011513770.1:n.365+20A>G
XM_011515468.3:c.365+20A>G	XP_011513770.1:n.365+20A>G
NM_203288.2:c.467+20A>G MANE Select	NP_976033.1:n.467+20A>G