Canonical Allele Identifier: CA8274743

Gene: SERPINF1

Linked Data

• dbSNP Id: rs1804148
• ExAC: 17:1675313 C / G
• gnomAD v2: 17-1675313-C-G
• gnomAD v4: 17-1772019-C-G
• MyVariant Identifiers: chr17:g.1675313C>G (hg19) ; chr17:g.1772019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1772019C>G , CM000679.2:g.1772019C>G	GRCh38
NC_000017.10:g.1675313C>G , CM000679.1:g.1675313C>G	GRCh37
NC_000017.9:g.1622063C>G	NCBI36
NG_028180.1:g.15055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254722.9:c.587C>G MANE Select	ENSP00000254722.4:p.Thr196Arg
ENST00000254722.8:c.587C>G	ENSP00000254722.4:p.Thr196Arg
ENST00000570820.1:n.807C>G
ENST00000572048.1:c.26C>G	ENSP00000458484.1:p.Thr9Arg
ENST00000573763.1:c.-15C>G	ENSP00000461405.1:n.-15C>G
ENST00000576406.5:c.26C>G	ENSP00000461214.1:p.Thr9Arg
NM_002615.5:c.587C>G	NP_002606.3:p.Thr196Arg
NM_001329903.1:c.587C>G	NP_001316832.1:p.Thr196Arg
NM_001329904.1:c.26C>G	NP_001316833.1:p.Thr9Arg
NM_001329905.1:c.26C>G	NP_001316834.1:p.Thr9Arg
NM_002615.6:c.587C>G	NP_002606.3:p.Thr196Arg
NM_002615.7:c.587C>G MANE Select	NP_002606.3:p.Thr196Arg
NM_001329903.2:c.587C>G	NP_001316832.1:p.Thr196Arg
NM_001329904.2:c.26C>G	NP_001316833.1:p.Thr9Arg
NM_001329905.2:c.26C>G	NP_001316834.1:p.Thr9Arg