Canonical Allele Identifier: CA286908646

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1190170
• ClinVar RCV Id: RCV001550776
• dbSNP Id: rs187519888
• gnomAD v2: 17-2579543-G-A
• gnomAD v3: 17-2676249-G-A
• gnomAD v4: 17-2676249-G-A
• MyVariant Identifiers: chr17:g.2579543G>A (hg19) ; chr17:g.2676249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676249G>A , CM000679.2:g.2676249G>A	GRCh38
NC_000017.10:g.2579543G>A , CM000679.1:g.2579543G>A	GRCh37
NC_000017.9:g.2526293G>A	NCBI36
NG_009799.1:g.87621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-256G>A MANE Select	ENSP00000380378.4:n.901-256G>A
ENST00000571495.2:n.1986-256G>A
ENST00000674608.1:c.955-256G>A	ENSP00000501976.1:n.955-256G>A
ENST00000674717.1:c.706-256G>A	ENSP00000501931.1:n.706-256G>A
ENST00000675202.1:c.901-256G>A	ENSP00000502843.1:n.901-256G>A
ENST00000675331.1:c.901-256G>A	ENSP00000502031.1:n.901-256G>A
ENST00000675385.1:n.324-65G>A
ENST00000675390.1:c.901-256G>A	ENSP00000501969.1:n.901-256G>A
ENST00000675574.1:n.3700G>A
ENST00000675621.1:c.901-256G>A	ENSP00000502117.1:n.901-256G>A
ENST00000675764.1:c.*855-256G>A	ENSP00000502242.1:n.*855-256G>A
ENST00000676077.1:c.*219-256G>A	ENSP00000502507.1:n.*219-256G>A
ENST00000676098.1:c.901-256G>A	ENSP00000502735.1:n.901-256G>A
ENST00000676188.1:c.901-256G>A	ENSP00000502577.1:n.901-256G>A
ENST00000676353.1:c.706-256G>A	ENSP00000502737.1:n.706-256G>A
ENST00000397193.7:n.709-256G>A
ENST00000397195.9:c.901-256G>A	ENSP00000380378.4:n.901-256G>A
ENST00000571495.1:n.625-256G>A
ENST00000572915.6:n.676+2153G>A
ENST00000574468.1:c.396+1961G>A	ENSP00000460591.1:n.396+1961G>A
ENST00000574816.5:n.31-65G>A
NM_000430.3:c.901-256G>A	NP_000421.1:n.901-256G>A
XM_011523901.1:c.955-256G>A	XP_011522203.1:n.955-256G>A
XM_011523902.1:c.955-256G>A	XP_011522204.1:n.955-256G>A
XM_011523903.1:c.955-256G>A	XP_011522205.1:n.955-256G>A
XM_011523901.2:c.955-256G>A	XP_011522203.1:n.955-256G>A
XM_011523902.3:c.955-256G>A	XP_011522204.1:n.955-256G>A
XM_011523903.2:c.955-256G>A	XP_011522205.1:n.955-256G>A
XM_017024701.1:c.901-256G>A	XP_016880190.1:n.901-256G>A
XM_017024702.2:c.706-256G>A	XP_016880191.1:n.706-256G>A
NM_000430.4:c.901-256G>A MANE Select	NP_000421.1:n.901-256G>A