Canonical Allele Identifier: CA357397649

Gene: PRDM8

Linked Data

• ClinVar Variation Id: 2291040
• ClinVar RCV Id: RCV004142058
• dbSNP Id: rs1738577914
• gnomAD v3: 4-80202468-T-G
• gnomAD v4: 4-80202468-T-G
• MyVariant Identifiers: chr4:g.81123622T>G (hg19) ; chr4:g.80202468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202468T>G , CM000666.2:g.80202468T>G	GRCh38
NC_000004.11:g.81123622T>G , CM000666.1:g.81123622T>G	GRCh37
NC_000004.10:g.81342646T>G	NCBI36
NG_046725.1:g.22199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1006T>G MANE Select	ENSP00000406998.2:p.Phe336Val
ENST00000339711.8:c.1006T>G	ENSP00000339764.4:p.Phe336Val
ENST00000415738.2:c.1006T>G	ENSP00000406998.2:p.Phe336Val
ENST00000504452.5:c.1006T>G	ENSP00000423985.1:p.Phe336Val
ENST00000515013.5:c.1006T>G	ENSP00000425149.1:p.Phe336Val
NM_001099403.1:c.1006T>G	NP_001092873.1:p.Phe336Val
NM_020226.3:c.1006T>G	NP_064611.3:p.Phe336Val
XM_005263144.2:c.1009T>G	XP_005263201.1:p.Phe337Val
XM_005263145.2:c.1009T>G	XP_005263202.1:p.Phe337Val
XM_005263146.3:c.1006T>G	XP_005263203.1:p.Phe336Val
XM_011532133.1:c.1849T>G	XP_011530435.1:p.Phe617Val
XM_011532134.1:c.1846T>G	XP_011530436.1:p.Phe616Val
XM_011532135.1:c.1708T>G	XP_011530437.1:p.Phe570Val
XM_011532136.1:c.1561T>G	XP_011530438.1:p.Phe521Val
XM_011532137.1:c.1561T>G	XP_011530439.1:p.Phe521Val
XM_011532138.1:c.1561T>G	XP_011530440.1:p.Phe521Val
XM_011532139.1:c.1561T>G	XP_011530441.1:p.Phe521Val
XM_011532140.1:c.1561T>G	XP_011530442.1:p.Phe521Val
XM_011532141.1:c.1423T>G	XP_011530443.1:p.Phe475Val
XM_011532142.1:c.1402T>G	XP_011530444.1:p.Phe468Val
XM_005263146.4:c.1006T>G	XP_005263203.1:p.Phe336Val
XM_011532133.2:c.1849T>G	XP_011530435.1:p.Phe617Val
XM_011532135.2:c.1708T>G	XP_011530437.1:p.Phe570Val
XM_011532140.2:c.1561T>G	XP_011530442.1:p.Phe521Val
XM_011532141.3:c.1423T>G	XP_011530443.1:p.Phe475Val
XM_017008468.1:c.1558T>G	XP_016863957.1:p.Phe520Val
XM_017008469.1:c.1645T>G	XP_016863958.1:p.Phe549Val
XM_017008470.1:c.1561T>G	XP_016863959.1:p.Phe521Val
NM_001099403.2:c.1006T>G MANE Select	NP_001092873.1:p.Phe336Val
NM_020226.4:c.1006T>G	NP_064611.3:p.Phe336Val