Canonical Allele Identifier: CA624510432

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1566267
• ClinVar RCV Id: RCV002207326
• dbSNP Id: rs745730592
• gnomAD v2: 17-2579912-T-C
• gnomAD v4: 17-2676618-T-C
• MyVariant Identifiers: chr17:g.2579912T>C (hg19) ; chr17:g.2676618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676618T>C , CM000679.2:g.2676618T>C	GRCh38
NC_000017.10:g.2579912T>C , CM000679.1:g.2579912T>C	GRCh37
NC_000017.9:g.2526662T>C	NCBI36
NG_009799.1:g.87990T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.1002+12T>C MANE Select	ENSP00000380378.4:n.1002+12T>C
ENST00000571495.2:n.2087+12T>C
ENST00000674608.1:c.1056+12T>C	ENSP00000501976.1:n.1056+12T>C
ENST00000674717.1:c.807+12T>C	ENSP00000501931.1:n.807+12T>C
ENST00000675084.1:n.256+12T>C
ENST00000675202.1:c.1002+12T>C	ENSP00000502843.1:n.1002+12T>C
ENST00000675331.1:c.1002+12T>C	ENSP00000502031.1:n.1002+12T>C
ENST00000675385.1:n.616+12T>C
ENST00000675390.1:c.1002+12T>C	ENSP00000501969.1:n.1002+12T>C
ENST00000675574.1:n.4057+12T>C
ENST00000675621.1:c.1002+12T>C	ENSP00000502117.1:n.1002+12T>C
ENST00000675764.1:c.*956+12T>C	ENSP00000502242.1:n.*956+12T>C
ENST00000676077.1:c.*320+12T>C	ENSP00000502507.1:n.*320+12T>C
ENST00000676098.1:c.1002+12T>C	ENSP00000502735.1:n.1002+12T>C
ENST00000676188.1:c.1002+12T>C	ENSP00000502577.1:n.1002+12T>C
ENST00000676353.1:c.807+12T>C	ENSP00000502737.1:n.807+12T>C
ENST00000397193.7:n.810+12T>C
ENST00000397195.9:c.1002+12T>C	ENSP00000380378.4:n.1002+12T>C
ENST00000571495.1:n.726+12T>C
ENST00000572915.6:n.676+2522T>C
ENST00000574468.1:c.396+2330T>C	ENSP00000460591.1:n.396+2330T>C
ENST00000574816.5:n.323+12T>C
NM_000430.3:c.1002+12T>C	NP_000421.1:n.1002+12T>C
XM_011523901.1:c.1056+12T>C	XP_011522203.1:n.1056+12T>C
XM_011523902.1:c.1056+12T>C	XP_011522204.1:n.1056+12T>C
XM_011523903.1:c.1056+12T>C	XP_011522205.1:n.1056+12T>C
XM_011523901.2:c.1056+12T>C	XP_011522203.1:n.1056+12T>C
XM_011523902.3:c.1056+12T>C	XP_011522204.1:n.1056+12T>C
XM_011523903.2:c.1056+12T>C	XP_011522205.1:n.1056+12T>C
XM_017024701.1:c.1002+12T>C	XP_016880190.1:n.1002+12T>C
XM_017024702.2:c.807+12T>C	XP_016880191.1:n.807+12T>C
NM_000430.4:c.1002+12T>C MANE Select	NP_000421.1:n.1002+12T>C