Canonical Allele Identifier: CA4213712
Gene: RP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1899551
ClinVar RCV Id: RCV002575533
dbSNP Id: rs376075857
ExAC: 7:33136096 C / T
gnomAD v2: 7-33136096-C-T
gnomAD v3: 7-33096484-C-T
gnomAD v4: 7-33096484-C-T
MyVariant Identifiers: chr7:g.33136096C>T (hg19) chr7:g.33096484C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096484C>T , CM000669.2:g.33096484C>T GRCh38
NC_000007.13:g.33136096C>T , CM000669.1:g.33136096C>T GRCh37
NC_000007.12:g.33102621C>T NCBI36
NG_012968.1:g.17907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2440+9G>A
ENST00000492391.2:n.1591+9G>A
ENST00000682645.1:n.3538+9G>A
ENST00000683432.1:c.*642+9G>A ENSP00000508174.1:n.*642+9G>A
ENST00000684207.1:c.*5G>A ENSP00000506942.1:n.*5G>A
ENST00000297157.8:c.467+9G>A MANE Select ENSP00000297157.3:n.467+9G>A
ENST00000297157.7:c.467+9G>A ENSP00000297157.3:n.467+9G>A
ENST00000448915.1:c.365+9G>A ENSP00000411577.1:n.365+9G>A
NM_203288.1:c.467+9G>A NP_976033.1:n.467+9G>A
XM_011515468.1:c.365+9G>A XP_011513770.1:n.365+9G>A
XM_011515468.3:c.365+9G>A XP_011513770.1:n.365+9G>A
NM_203288.2:c.467+9G>A MANE Select NP_976033.1:n.467+9G>A
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