Canonical Allele Identifier: CA357398131

Gene: PRDM8

Linked Data

• ClinVar Variation Id: 1965606
• ClinVar RCV Id: RCV002745310
• gnomAD v4: 4-80202546-T-C
• MyVariant Identifiers: chr4:g.81123700T>C (hg19) ; chr4:g.80202546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202546T>C , CM000666.2:g.80202546T>C	GRCh38
NC_000004.11:g.81123700T>C , CM000666.1:g.81123700T>C	GRCh37
NC_000004.10:g.81342724T>C	NCBI36
NG_046725.1:g.22277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1084T>C MANE Select	ENSP00000406998.2:p.Phe362Leu
ENST00000339711.8:c.1084T>C	ENSP00000339764.4:p.Phe362Leu
ENST00000415738.2:c.1084T>C	ENSP00000406998.2:p.Phe362Leu
ENST00000504452.5:c.1084T>C	ENSP00000423985.1:p.Phe362Leu
ENST00000515013.5:c.1084T>C	ENSP00000425149.1:p.Phe362Leu
NM_001099403.1:c.1084T>C	NP_001092873.1:p.Phe362Leu
NM_020226.3:c.1084T>C	NP_064611.3:p.Phe362Leu
XM_005263144.2:c.1087T>C	XP_005263201.1:p.Phe363Leu
XM_005263145.2:c.1087T>C	XP_005263202.1:p.Phe363Leu
XM_005263146.3:c.1084T>C	XP_005263203.1:p.Phe362Leu
XM_011532133.1:c.1927T>C	XP_011530435.1:p.Phe643Leu
XM_011532134.1:c.1924T>C	XP_011530436.1:p.Phe642Leu
XM_011532135.1:c.1786T>C	XP_011530437.1:p.Phe596Leu
XM_011532136.1:c.1639T>C	XP_011530438.1:p.Phe547Leu
XM_011532137.1:c.1639T>C	XP_011530439.1:p.Phe547Leu
XM_011532138.1:c.1639T>C	XP_011530440.1:p.Phe547Leu
XM_011532139.1:c.1639T>C	XP_011530441.1:p.Phe547Leu
XM_011532140.1:c.1639T>C	XP_011530442.1:p.Phe547Leu
XM_011532141.1:c.1501T>C	XP_011530443.1:p.Phe501Leu
XM_011532142.1:c.1480T>C	XP_011530444.1:p.Phe494Leu
XM_005263146.4:c.1084T>C	XP_005263203.1:p.Phe362Leu
XM_011532133.2:c.1927T>C	XP_011530435.1:p.Phe643Leu
XM_011532135.2:c.1786T>C	XP_011530437.1:p.Phe596Leu
XM_011532140.2:c.1639T>C	XP_011530442.1:p.Phe547Leu
XM_011532141.3:c.1501T>C	XP_011530443.1:p.Phe501Leu
XM_017008468.1:c.1636T>C	XP_016863957.1:p.Phe546Leu
XM_017008469.1:c.1723T>C	XP_016863958.1:p.Phe575Leu
XM_017008470.1:c.1639T>C	XP_016863959.1:p.Phe547Leu
NM_001099403.2:c.1084T>C MANE Select	NP_001092873.1:p.Phe362Leu
NM_020226.4:c.1084T>C	NP_064611.3:p.Phe362Leu