Canonical Allele Identifier: CA8283250

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1367565
• ClinVar RCV Id: RCV001932518
• dbSNP Id: rs121434488
• ExAC: 17:2577404 G / A
• gnomAD v2: 17-2577404-G-A
• gnomAD v3: 17-2674110-G-A
• gnomAD v4: 17-2674110-G-A
• COSMIC: COSM5015792
• MyVariant Identifiers: chr17:g.2577404G>A (hg19) ; chr17:g.2674110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674110G>A , CM000679.2:g.2674110G>A	GRCh38
NC_000017.10:g.2577404G>A , CM000679.1:g.2577404G>A	GRCh37
NC_000017.9:g.2524154G>A	NCBI36
NG_009799.1:g.85482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.722G>A MANE Select	ENSP00000380378.4:p.Arg241Gln
ENST00000571495.2:n.1807G>A
ENST00000674608.1:c.776G>A	ENSP00000501976.1:p.Arg259Gln
ENST00000674717.1:c.527G>A	ENSP00000501931.1:p.Arg176Gln
ENST00000675202.1:c.722G>A	ENSP00000502843.1:p.Arg241Gln
ENST00000675331.1:c.722G>A	ENSP00000502031.1:p.Arg241Gln
ENST00000675390.1:c.722G>A	ENSP00000501969.1:p.Arg241Gln
ENST00000675574.1:n.1794G>A
ENST00000675621.1:c.722G>A	ENSP00000502117.1:p.Arg241Gln
ENST00000675764.1:c.*676G>A	ENSP00000502242.1:n.*676G>A
ENST00000676077.1:c.*40G>A	ENSP00000502507.1:n.*40G>A
ENST00000676098.1:c.722G>A	ENSP00000502735.1:p.Arg241Gln
ENST00000676188.1:c.722G>A	ENSP00000502577.1:p.Arg241Gln
ENST00000676353.1:c.527G>A	ENSP00000502737.1:p.Arg176Gln
ENST00000397193.7:n.530G>A
ENST00000397195.9:c.722G>A	ENSP00000380378.4:p.Arg241Gln
ENST00000571495.1:n.446G>A
ENST00000572915.6:n.676+14G>A
ENST00000574468.1:c.218G>A	ENSP00000460591.1:p.Arg73Gln
ENST00000574816.5:n.31-2204G>A
NM_000430.3:c.722G>A	NP_000421.1:p.Arg241Gln
XM_011523901.1:c.776G>A	XP_011522203.1:p.Arg259Gln
XM_011523902.1:c.776G>A	XP_011522204.1:p.Arg259Gln
XM_011523903.1:c.776G>A	XP_011522205.1:p.Arg259Gln
XM_011523904.1:c.*40G>A	XP_011522206.1:n.*40G>A
XM_011523901.2:c.776G>A	XP_011522203.1:p.Arg259Gln
XM_011523902.3:c.776G>A	XP_011522204.1:p.Arg259Gln
XM_011523903.2:c.776G>A	XP_011522205.1:p.Arg259Gln
XM_017024701.1:c.722G>A	XP_016880190.1:p.Arg241Gln
XM_017024702.2:c.527G>A	XP_016880191.1:p.Arg176Gln
NM_000430.4:c.722G>A MANE Select	NP_000421.1:p.Arg241Gln