Canonical Allele Identifier: CA397641727

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069227411
• gnomAD v3: 17-2674115-A-C
• gnomAD v4: 17-2674115-A-C
• MyVariant Identifiers: chr17:g.2577409A>C (hg19) ; chr17:g.2674115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674115A>C , CM000679.2:g.2674115A>C	GRCh38
NC_000017.10:g.2577409A>C , CM000679.1:g.2577409A>C	GRCh37
NC_000017.9:g.2524159A>C	NCBI36
NG_009799.1:g.85487A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.727A>C MANE Select	ENSP00000380378.4:p.Asn243His
ENST00000571495.2:n.1812A>C
ENST00000674608.1:c.781A>C	ENSP00000501976.1:p.Asn261His
ENST00000674717.1:c.532A>C	ENSP00000501931.1:p.Asn178His
ENST00000675202.1:c.727A>C	ENSP00000502843.1:p.Asn243His
ENST00000675331.1:c.727A>C	ENSP00000502031.1:p.Asn243His
ENST00000675390.1:c.727A>C	ENSP00000501969.1:p.Asn243His
ENST00000675574.1:n.1799A>C
ENST00000675621.1:c.727A>C	ENSP00000502117.1:p.Asn243His
ENST00000675764.1:c.*681A>C	ENSP00000502242.1:n.*681A>C
ENST00000676077.1:c.*45A>C	ENSP00000502507.1:n.*45A>C
ENST00000676098.1:c.727A>C	ENSP00000502735.1:p.Asn243His
ENST00000676188.1:c.727A>C	ENSP00000502577.1:p.Asn243His
ENST00000676353.1:c.532A>C	ENSP00000502737.1:p.Asn178His
ENST00000397193.7:n.535A>C
ENST00000397195.9:c.727A>C	ENSP00000380378.4:p.Asn243His
ENST00000571495.1:n.451A>C
ENST00000572915.6:n.676+19A>C
ENST00000574468.1:c.223A>C	ENSP00000460591.1:p.Asn75His
ENST00000574816.5:n.31-2199A>C
NM_000430.3:c.727A>C	NP_000421.1:p.Asn243His
XM_011523901.1:c.781A>C	XP_011522203.1:p.Asn261His
XM_011523902.1:c.781A>C	XP_011522204.1:p.Asn261His
XM_011523903.1:c.781A>C	XP_011522205.1:p.Asn261His
XM_011523904.1:c.*45A>C	XP_011522206.1:n.*45A>C
XM_011523901.2:c.781A>C	XP_011522203.1:p.Asn261His
XM_011523902.3:c.781A>C	XP_011522204.1:p.Asn261His
XM_011523903.2:c.781A>C	XP_011522205.1:p.Asn261His
XM_017024701.1:c.727A>C	XP_016880190.1:p.Asn243His
XM_017024702.2:c.532A>C	XP_016880191.1:p.Asn178His
NM_000430.4:c.727A>C MANE Select	NP_000421.1:p.Asn243His