Canonical Allele Identifier: CA8283232

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1406323
• ClinVar RCV Id: RCV001915770 ; RCV003401867
• dbSNP Id: rs555806037
• ExAC: 17:2576026 A / G
• gnomAD v2: 17-2576026-A-G
• gnomAD v3: 17-2672732-A-G
• gnomAD v4: 17-2672732-A-G
• COSMIC: COSM4597738
• MyVariant Identifiers: chr17:g.2576026A>G (hg19) ; chr17:g.2672732A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672732A>G , CM000679.2:g.2672732A>G	GRCh38
NC_000017.10:g.2576026A>G , CM000679.1:g.2576026A>G	GRCh37
NC_000017.9:g.2522776A>G	NCBI36
NG_009799.1:g.84104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.646A>G MANE Select	ENSP00000380378.4:p.Ile216Val
ENST00000571495.2:n.429A>G
ENST00000674608.1:c.700A>G	ENSP00000501976.1:p.Ile234Val
ENST00000674717.1:c.451A>G	ENSP00000501931.1:p.Ile151Val
ENST00000675202.1:c.646A>G	ENSP00000502843.1:p.Ile216Val
ENST00000675331.1:c.646A>G	ENSP00000502031.1:p.Ile216Val
ENST00000675390.1:c.646A>G	ENSP00000501969.1:p.Ile216Val
ENST00000675574.1:n.416A>G
ENST00000675621.1:c.646A>G	ENSP00000502117.1:p.Ile216Val
ENST00000675764.1:c.*600A>G	ENSP00000502242.1:n.*600A>G
ENST00000676077.1:c.374-1328A>G	ENSP00000502507.1:n.374-1328A>G
ENST00000676098.1:c.646A>G	ENSP00000502735.1:p.Ile216Val
ENST00000676188.1:c.646A>G	ENSP00000502577.1:p.Ile216Val
ENST00000676353.1:c.451A>G	ENSP00000502737.1:p.Ile151Val
ENST00000397193.7:n.454A>G
ENST00000397195.9:c.646A>G	ENSP00000380378.4:p.Ile216Val
ENST00000572915.6:n.614A>G
ENST00000574468.1:c.142A>G	ENSP00000460591.1:p.Ile48Val
ENST00000574816.5:n.31-3582A>G
NM_000430.3:c.646A>G	NP_000421.1:p.Ile216Val
XM_011523901.1:c.700A>G	XP_011522203.1:p.Ile234Val
XM_011523902.1:c.700A>G	XP_011522204.1:p.Ile234Val
XM_011523903.1:c.700A>G	XP_011522205.1:p.Ile234Val
XM_011523904.1:c.623-1328A>G	XP_011522206.1:n.623-1328A>G
XM_011523901.2:c.700A>G	XP_011522203.1:p.Ile234Val
XM_011523902.3:c.700A>G	XP_011522204.1:p.Ile234Val
XM_011523903.2:c.700A>G	XP_011522205.1:p.Ile234Val
XM_017024701.1:c.646A>G	XP_016880190.1:p.Ile216Val
XM_017024702.2:c.451A>G	XP_016880191.1:p.Ile151Val
NM_000430.4:c.646A>G MANE Select	NP_000421.1:p.Ile216Val