Canonical Allele Identifier: CA14927496
Gene: CBX7 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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