Canonical Allele Identifier: CA286904866

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1589992
• ClinVar RCV Id: RCV002119533
• dbSNP Id: rs988234105
• gnomAD v2: 17-2568758-T-C
• gnomAD v3: 17-2665464-T-C
• gnomAD v4: 17-2665464-T-C
• MyVariant Identifiers: chr17:g.2568758T>C (hg19) ; chr17:g.2665464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665464T>C , CM000679.2:g.2665464T>C	GRCh38
NC_000017.10:g.2568758T>C , CM000679.1:g.2568758T>C	GRCh37
NC_000017.9:g.2515508T>C	NCBI36
NG_009799.1:g.76836T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.117+8T>C MANE Select	ENSP00000380378.4:n.117+8T>C
ENST00000674608.1:c.171+8T>C	ENSP00000501976.1:n.171+8T>C
ENST00000674717.1:c.-3-1528T>C	ENSP00000501931.1:n.-3-1528T>C
ENST00000675202.1:c.117+8T>C	ENSP00000502843.1:n.117+8T>C
ENST00000675331.1:c.117+8T>C	ENSP00000502031.1:n.117+8T>C
ENST00000675390.1:c.117+8T>C	ENSP00000501969.1:n.117+8T>C
ENST00000675430.1:n.344+8T>C
ENST00000675621.1:c.117+8T>C	ENSP00000502117.1:n.117+8T>C
ENST00000675764.1:c.*71+8T>C	ENSP00000502242.1:n.*71+8T>C
ENST00000676077.1:c.-79+8T>C	ENSP00000502507.1:n.-79+8T>C
ENST00000676098.1:c.117+8T>C	ENSP00000502735.1:n.117+8T>C
ENST00000676188.1:c.117+8T>C	ENSP00000502577.1:n.117+8T>C
ENST00000676201.1:n.272-552T>C
ENST00000676353.1:c.-78-552T>C	ENSP00000502737.1:n.-78-552T>C
ENST00000676456.1:n.223-552T>C
ENST00000397195.9:c.117+8T>C	ENSP00000380378.4:n.117+8T>C
ENST00000570400.1:c.33-552T>C	ENSP00000460258.1:n.33-552T>C
ENST00000572915.6:n.273-1528T>C
ENST00000574816.5:n.31-10850T>C
ENST00000575477.5:n.620-552T>C
ENST00000576586.5:c.117+8T>C	ENSP00000461087.1:n.117+8T>C
ENST00000609078.1:n.76+8T>C
NM_000430.3:c.117+8T>C	NP_000421.1:n.117+8T>C
XM_011523901.1:c.171+8T>C	XP_011522203.1:n.171+8T>C
XM_011523902.1:c.171+8T>C	XP_011522204.1:n.171+8T>C
XM_011523903.1:c.171+8T>C	XP_011522205.1:n.171+8T>C
XM_011523904.1:c.171+8T>C	XP_011522206.1:n.171+8T>C
XM_011523901.2:c.171+8T>C	XP_011522203.1:n.171+8T>C
XM_011523902.3:c.171+8T>C	XP_011522204.1:n.171+8T>C
XM_011523903.2:c.171+8T>C	XP_011522205.1:n.171+8T>C
XM_017024701.1:c.117+8T>C	XP_016880190.1:n.117+8T>C
XM_017024702.2:c.-78-552T>C	XP_016880191.1:n.-78-552T>C
NM_000430.4:c.117+8T>C MANE Select	NP_000421.1:n.117+8T>C