Canonical Allele Identifier: CA2982374

Gene: PRDM8

Linked Data

• ClinVar Variation Id: 1046454
• ClinVar RCV Id: RCV001351016
• dbSNP Id: rs746862284
• ExAC: 4:81123693 C / T
• gnomAD v2: 4-81123693-C-T
• gnomAD v3: 4-80202539-C-T
• gnomAD v4: 4-80202539-C-T
• MyVariant Identifiers: chr4:g.81123693C>T (hg19) ; chr4:g.80202539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202539C>T , CM000666.2:g.80202539C>T	GRCh38
NC_000004.11:g.81123693C>T , CM000666.1:g.81123693C>T	GRCh37
NC_000004.10:g.81342717C>T	NCBI36
NG_046725.1:g.22270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1077C>T MANE Select	ENSP00000406998.2:p.Gly359=
ENST00000339711.8:c.1077C>T	ENSP00000339764.4:p.Gly359=
ENST00000415738.2:c.1077C>T	ENSP00000406998.2:p.Gly359=
ENST00000504452.5:c.1077C>T	ENSP00000423985.1:p.Gly359=
ENST00000515013.5:c.1077C>T	ENSP00000425149.1:p.Gly359=
NM_001099403.1:c.1077C>T	NP_001092873.1:p.Gly359=
NM_020226.3:c.1077C>T	NP_064611.3:p.Gly359=
XM_005263144.2:c.1080C>T	XP_005263201.1:p.Gly360=
XM_005263145.2:c.1080C>T	XP_005263202.1:p.Gly360=
XM_005263146.3:c.1077C>T	XP_005263203.1:p.Gly359=
XM_011532133.1:c.1920C>T	XP_011530435.1:p.Gly640=
XM_011532134.1:c.1917C>T	XP_011530436.1:p.Gly639=
XM_011532135.1:c.1779C>T	XP_011530437.1:p.Gly593=
XM_011532136.1:c.1632C>T	XP_011530438.1:p.Gly544=
XM_011532137.1:c.1632C>T	XP_011530439.1:p.Gly544=
XM_011532138.1:c.1632C>T	XP_011530440.1:p.Gly544=
XM_011532139.1:c.1632C>T	XP_011530441.1:p.Gly544=
XM_011532140.1:c.1632C>T	XP_011530442.1:p.Gly544=
XM_011532141.1:c.1494C>T	XP_011530443.1:p.Gly498=
XM_011532142.1:c.1473C>T	XP_011530444.1:p.Gly491=
XM_005263146.4:c.1077C>T	XP_005263203.1:p.Gly359=
XM_011532133.2:c.1920C>T	XP_011530435.1:p.Gly640=
XM_011532135.2:c.1779C>T	XP_011530437.1:p.Gly593=
XM_011532140.2:c.1632C>T	XP_011530442.1:p.Gly544=
XM_011532141.3:c.1494C>T	XP_011530443.1:p.Gly498=
XM_017008468.1:c.1629C>T	XP_016863957.1:p.Gly543=
XM_017008469.1:c.1716C>T	XP_016863958.1:p.Gly572=
XM_017008470.1:c.1632C>T	XP_016863959.1:p.Gly544=
NM_001099403.2:c.1077C>T MANE Select	NP_001092873.1:p.Gly359=
NM_020226.4:c.1077C>T	NP_064611.3:p.Gly359=