Canonical Allele Identifier: CA8283254

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1484487
• ClinVar RCV Id: RCV002038085 ; RCV002492241
• dbSNP Id: rs140360173
• ExAC: 17:2577437 G / C
• gnomAD v2: 17-2577437-G-C
• gnomAD v3: 17-2674143-G-C
• gnomAD v4: 17-2674143-G-C
• MyVariant Identifiers: chr17:g.2577437G>C (hg19) ; chr17:g.2674143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674143G>C , CM000679.2:g.2674143G>C	GRCh38
NC_000017.10:g.2577437G>C , CM000679.1:g.2577437G>C	GRCh37
NC_000017.9:g.2524187G>C	NCBI36
NG_009799.1:g.85515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.755G>C MANE Select	ENSP00000380378.4:p.Cys252Ser
ENST00000571495.2:n.1840G>C
ENST00000674608.1:c.809G>C	ENSP00000501976.1:p.Cys270Ser
ENST00000674717.1:c.560G>C	ENSP00000501931.1:p.Cys187Ser
ENST00000675202.1:c.755G>C	ENSP00000502843.1:p.Cys252Ser
ENST00000675331.1:c.755G>C	ENSP00000502031.1:p.Cys252Ser
ENST00000675390.1:c.755G>C	ENSP00000501969.1:p.Cys252Ser
ENST00000675574.1:n.1827G>C
ENST00000675621.1:c.755G>C	ENSP00000502117.1:p.Cys252Ser
ENST00000675764.1:c.*709G>C	ENSP00000502242.1:n.*709G>C
ENST00000676077.1:c.*73G>C	ENSP00000502507.1:n.*73G>C
ENST00000676098.1:c.755G>C	ENSP00000502735.1:p.Cys252Ser
ENST00000676188.1:c.755G>C	ENSP00000502577.1:p.Cys252Ser
ENST00000676353.1:c.560G>C	ENSP00000502737.1:p.Cys187Ser
ENST00000397193.7:n.563G>C
ENST00000397195.9:c.755G>C	ENSP00000380378.4:p.Cys252Ser
ENST00000571495.1:n.479G>C
ENST00000572915.6:n.676+47G>C
ENST00000574468.1:c.251G>C	ENSP00000460591.1:p.Cys84Ser
ENST00000574816.5:n.31-2171G>C
NM_000430.3:c.755G>C	NP_000421.1:p.Cys252Ser
XM_011523901.1:c.809G>C	XP_011522203.1:p.Cys270Ser
XM_011523902.1:c.809G>C	XP_011522204.1:p.Cys270Ser
XM_011523903.1:c.809G>C	XP_011522205.1:p.Cys270Ser
XM_011523904.1:c.*73G>C	XP_011522206.1:n.*73G>C
XM_011523901.2:c.809G>C	XP_011522203.1:p.Cys270Ser
XM_011523902.3:c.809G>C	XP_011522204.1:p.Cys270Ser
XM_011523903.2:c.809G>C	XP_011522205.1:p.Cys270Ser
XM_017024701.1:c.755G>C	XP_016880190.1:p.Cys252Ser
XM_017024702.2:c.560G>C	XP_016880191.1:p.Cys187Ser
NM_000430.4:c.755G>C MANE Select	NP_000421.1:p.Cys252Ser