Canonical Allele Identifier: CA8283159

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 2160683
• ClinVar RCV Id: RCV003087696
• dbSNP Id: rs764855780
• ExAC: 17:2570386 C / T
• gnomAD v2: 17-2570386-C-T
• gnomAD v4: 17-2667092-C-T
• COSMIC: COSM4710831
• MyVariant Identifiers: chr17:g.2570386C>T (hg19) ; chr17:g.2667092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667092C>T , CM000679.2:g.2667092C>T	GRCh38
NC_000017.10:g.2570386C>T , CM000679.1:g.2570386C>T	GRCh37
NC_000017.9:g.2517136C>T	NCBI36
NG_009799.1:g.78464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.293C>T MANE Select	ENSP00000380378.4:p.Pro98Leu
ENST00000674608.1:c.347C>T	ENSP00000501976.1:p.Pro116Leu
ENST00000674717.1:c.98C>T	ENSP00000501931.1:p.Pro33Leu
ENST00000675202.1:c.293C>T	ENSP00000502843.1:p.Pro98Leu
ENST00000675331.1:c.293C>T	ENSP00000502031.1:p.Pro98Leu
ENST00000675390.1:c.293C>T	ENSP00000501969.1:p.Pro98Leu
ENST00000675430.1:n.520C>T
ENST00000675621.1:c.293C>T	ENSP00000502117.1:p.Pro98Leu
ENST00000675764.1:c.*247C>T	ENSP00000502242.1:n.*247C>T
ENST00000676077.1:c.98C>T	ENSP00000502507.1:p.Pro33Leu
ENST00000676098.1:c.293C>T	ENSP00000502735.1:p.Pro98Leu
ENST00000676188.1:c.293C>T	ENSP00000502577.1:p.Pro98Leu
ENST00000676201.1:n.447C>T
ENST00000676353.1:c.98C>T	ENSP00000502737.1:p.Pro33Leu
ENST00000676456.1:n.398C>T
ENST00000397195.9:c.293C>T	ENSP00000380378.4:p.Pro98Leu
ENST00000570400.1:c.*163C>T	ENSP00000460258.1:n.*163C>T
ENST00000572915.6:n.373C>T
ENST00000574816.5:n.31-9222C>T
ENST00000609078.1:n.252C>T
NM_000430.3:c.293C>T	NP_000421.1:p.Pro98Leu
XM_011523901.1:c.347C>T	XP_011522203.1:p.Pro116Leu
XM_011523902.1:c.347C>T	XP_011522204.1:p.Pro116Leu
XM_011523903.1:c.347C>T	XP_011522205.1:p.Pro116Leu
XM_011523904.1:c.347C>T	XP_011522206.1:p.Pro116Leu
XM_011523901.2:c.347C>T	XP_011522203.1:p.Pro116Leu
XM_011523902.3:c.347C>T	XP_011522204.1:p.Pro116Leu
XM_011523903.2:c.347C>T	XP_011522205.1:p.Pro116Leu
XM_017024701.1:c.293C>T	XP_016880190.1:p.Pro98Leu
XM_017024702.2:c.98C>T	XP_016880191.1:p.Pro33Leu
NM_000430.4:c.293C>T MANE Select	NP_000421.1:p.Pro98Leu