Canonical Allele Identifier: CA248888

Gene: SERPINF1

Linked Data

• ClinVar Variation Id: 218613
• ClinVar RCV Id: RCV000202689 ; RCV000317548 ; RCV000657868 ; RCV001843423 ; RCV002277560 ; RCV003907757
• dbSNP Id: rs140512665
• ExAC: 17:1673303 C / G
• gnomAD v2: 17-1673303-C-G
• gnomAD v3: 17-1770009-C-G
• gnomAD v4: 17-1770009-C-G
• MyVariant Identifiers: chr17:g.1673303C>G (hg19) ; chr17:g.1770009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1770009C>G , CM000679.2:g.1770009C>G	GRCh38
NC_000017.10:g.1673303C>G , CM000679.1:g.1673303C>G	GRCh37
NC_000017.9:g.1620053C>G	NCBI36
NG_028180.1:g.13045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254722.9:c.242C>G MANE Select	ENSP00000254722.4:p.Ser81Cys
ENST00000254722.8:c.242C>G	ENSP00000254722.4:p.Ser81Cys
ENST00000570731.5:c.242C>G	ENSP00000459869.1:p.Ser81Cys
ENST00000571149.5:c.242C>G	ENSP00000460905.1:p.Ser81Cys
ENST00000571360.5:c.203C>G	ENSP00000461660.1:p.Ser68Cys
ENST00000571870.5:n.483C>G
ENST00000573770.5:c.242C>G	ENSP00000459107.1:p.Ser81Cys
ENST00000576406.5:c.-320C>G	ENSP00000461214.1:n.-320C>G
ENST00000577053.1:c.242C>G	ENSP00000460842.1:p.Ser81Cys
NM_002615.5:c.242C>G	NP_002606.3:p.Ser81Cys
NM_001329903.1:c.242C>G	NP_001316832.1:p.Ser81Cys
NM_001329904.1:c.-320C>G	NP_001316833.1:n.-320C>G
NM_002615.6:c.242C>G	NP_002606.3:p.Ser81Cys
NM_002615.7:c.242C>G MANE Select	NP_002606.3:p.Ser81Cys
NM_001329903.2:c.242C>G	NP_001316832.1:p.Ser81Cys
NM_001329904.2:c.-320C>G	NP_001316833.1:n.-320C>G