Canonical Allele Identifier: CA8274047

Gene: SERPINF2

Linked Data

• ClinVar Variation Id: 256837
• ClinVar RCV Id: RCV000242389
• dbSNP Id: rs2070863
• ExAC: 17:1648502 C / T
• gnomAD v2: 17-1648502-C-T
• gnomAD v3: 17-1745208-C-T
• gnomAD v4: 17-1745208-C-T
• MyVariant Identifiers: chr17:g.1648502C>T (hg19) ; chr17:g.1745208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1745208C>T , CM000679.2:g.1745208C>T	GRCh38
NC_000017.10:g.1648502C>T , CM000679.1:g.1648502C>T	GRCh37
NC_000017.9:g.1595252C>T	NCBI36
NG_013215.1:g.7373C>T , LRG_885:g.7373C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382061.5:c.97C>T	ENSP00000371493.4:p.Arg33Trp
ENST00000453066.6:c.97C>T MANE Select	ENSP00000402286.2:p.Arg33Trp
ENST00000324015.7:c.97C>T	ENSP00000321853.3:p.Arg33Trp
ENST00000382061.4:c.97C>T	ENSP00000371493.4:p.Arg33Trp
ENST00000450523.6:c.97C>T	ENSP00000403877.2:p.Arg33Trp
ENST00000453066.5:c.97C>T	ENSP00000402286.1:p.Arg33Trp
ENST00000453723.5:c.97C>T	ENSP00000402056.1:p.Arg33Trp
NM_000934.3:c.97C>T , LRG_885t1:c.97C>T	NP_000925.2:p.Arg33Trp
NM_001165920.1:c.97C>T	NP_001159392.1:p.Arg33Trp
NM_001165921.1:c.97C>T	NP_001159393.1:p.Arg33Trp
XM_005256699.3:c.202C>T	XP_005256756.1:p.Arg68Trp
XM_005256700.3:c.109C>T	XP_005256757.1:p.Arg37Trp
XM_005256701.3:c.145C>T	XP_005256758.2:p.Arg49Trp
XM_005256703.3:c.16C>T	XP_005256760.1:p.Arg6Trp
XM_005256701.4:c.145C>T	XP_005256758.2:p.Arg49Trp
XM_017024765.1:c.109C>T	XP_016880254.1:p.Arg37Trp
XM_024450805.1:c.109C>T	XP_024306573.1:p.Arg37Trp
NM_000934.4:c.97C>T MANE Select	NP_000925.2:p.Arg33Trp
NM_001165921.2:c.97C>T	NP_001159393.1:p.Arg33Trp