Canonical Allele Identifier: CA397584444
Gene: SERPINF1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1771040C>T , CM000679.2:g.1771040C>T GRCh38
NC_000017.10:g.1674334C>T , CM000679.1:g.1674334C>T GRCh37
NC_000017.9:g.1621084C>T NCBI36
NG_028180.1:g.14076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254722.9:c.295C>T MANE Select ENSP00000254722.4:p.Arg99Ter
ENST00000254722.8:c.295C>T ENSP00000254722.4:p.Arg99Ter
ENST00000570731.5:c.295C>T ENSP00000459869.1:p.Arg99Ter
ENST00000570820.1:n.515C>T
ENST00000571360.5:c.256C>T ENSP00000461660.1:p.Arg86Ter
ENST00000571870.5:n.536C>T
ENST00000573770.5:c.*145C>T ENSP00000459107.1:n.*145C>T
ENST00000576406.5:c.-267C>T ENSP00000461214.1:n.-267C>T
ENST00000577053.1:c.295C>T ENSP00000460842.1:p.Arg99Ter
NM_002615.5:c.295C>T NP_002606.3:p.Arg99Ter
NM_001329903.1:c.295C>T NP_001316832.1:p.Arg99Ter
NM_001329904.1:c.-267C>T NP_001316833.1:n.-267C>T
NM_002615.6:c.295C>T NP_002606.3:p.Arg99Ter
NM_002615.7:c.295C>T MANE Select NP_002606.3:p.Arg99Ter
NM_001329903.2:c.295C>T NP_001316832.1:p.Arg99Ter
NM_001329904.2:c.-267C>T NP_001316833.1:n.-267C>T