Canonical Allele Identifier: CA2832584434
Community Standard Title: NM_175709.5(CBX7):c.113+3502C>A
Gene: CBX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39146287G>T , CM000684.2:g.39146287G>T GRCh38
NC_000022.10:g.39542292G>T , CM000684.1:g.39542292G>T GRCh37
NC_000022.9:g.37872238G>T NCBI36
NG_051974.1:g.11364C>A

Transcript Alleles

HGVS Amino-acid Change
NM_175709.5:c.113+3502C>A MANE Select NP_783640.1:n.113+3502C>A
ENST00000216133.10:c.113+3502C>A MANE Select ENSP00000216133.5:n.113+3502C>A
NM_001346743.1:c.113+3502C>A NP_001333672.1:n.113+3502C>A
NM_001346743.2:c.113+3502C>A NP_001333672.1:n.113+3502C>A
NM_001346744.1:c.113+3502C>A NP_001333673.1:n.113+3502C>A
NM_001346744.2:c.113+3502C>A NP_001333673.1:n.113+3502C>A
NM_175709.3:c.113+3502C>A NP_783640.1:n.113+3502C>A
NM_175709.4:c.113+3502C>A NP_783640.1:n.113+3502C>A
ENST00000216133.9:c.113+3502C>A ENSP00000216133.5:n.113+3502C>A
ENST00000401405.7:c.113+3502C>A ENSP00000384035.3:n.113+3502C>A
ENST00000434260.1:c.113+3502C>A ENSP00000410896.1:n.113+3502C>A
ENST00000475962.5:n.44+3502C>A
ENST00000477827.1:n.209+3502C>A
XM_005261413.3:c.113+3502C>A XP_005261470.1:n.113+3502C>A
XM_006724174.2:c.113+3502C>A XP_006724237.1:n.113+3502C>A
XM_006724174.4:c.113+3502C>A XP_006724237.1:n.113+3502C>A
XM_006724175.2:c.113+3502C>A XP_006724238.1:n.113+3502C>A
XM_006724175.4:c.113+3502C>A XP_006724238.1:n.113+3502C>A
XM_006724176.2:c.113+3502C>A XP_006724239.1:n.113+3502C>A
XM_006724176.4:c.113+3502C>A XP_006724239.1:n.113+3502C>A
XM_006724177.2:c.113+3502C>A XP_006724240.1:n.113+3502C>A
XM_006724177.4:c.113+3502C>A XP_006724240.1:n.113+3502C>A
XM_006724178.2:c.113+3502C>A XP_006724241.1:n.113+3502C>A
XM_006724178.4:c.113+3502C>A XP_006724241.1:n.113+3502C>A
XM_011530025.1:c.113+3502C>A XP_011528327.1:n.113+3502C>A
XM_011530025.3:c.113+3502C>A XP_011528327.1:n.113+3502C>A