Canonical Allele Identifier: CA4213713
Gene: RP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050907
ClinVar RCV Id: RCV002922144
dbSNP Id: rs370324630
ExAC: 7:33136097 G / A
gnomAD v2: 7-33136097-G-A
gnomAD v3: 7-33096485-G-A
gnomAD v4: 7-33096485-G-A
MyVariant Identifiers: chr7:g.33136097G>A (hg19) chr7:g.33096485G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096485G>A , CM000669.2:g.33096485G>A GRCh38
NC_000007.13:g.33136097G>A , CM000669.1:g.33136097G>A GRCh37
NC_000007.12:g.33102622G>A NCBI36
NG_012968.1:g.17906C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2440+8C>T
ENST00000492391.2:n.1591+8C>T
ENST00000682645.1:n.3538+8C>T
ENST00000683432.1:c.*642+8C>T ENSP00000508174.1:n.*642+8C>T
ENST00000684207.1:c.*4C>T ENSP00000506942.1:n.*4C>T
ENST00000297157.8:c.467+8C>T MANE Select ENSP00000297157.3:n.467+8C>T
ENST00000297157.7:c.467+8C>T ENSP00000297157.3:n.467+8C>T
ENST00000448915.1:c.365+8C>T ENSP00000411577.1:n.365+8C>T
NM_203288.1:c.467+8C>T NP_976033.1:n.467+8C>T
XM_011515468.1:c.365+8C>T XP_011513770.1:n.365+8C>T
XM_011515468.3:c.365+8C>T XP_011513770.1:n.365+8C>T
NM_203288.2:c.467+8C>T MANE Select NP_976033.1:n.467+8C>T
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