Canonical Allele Identifier: CA8274673
Community Standard Title: NM_002615.7(SERPINF1):c.426C>T (p.Ile142=)
Gene: SERPINF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1771171C>T , CM000679.2:g.1771171C>T GRCh38
NC_000017.10:g.1674465C>T , CM000679.1:g.1674465C>T GRCh37
NC_000017.9:g.1621215C>T NCBI36
NG_028180.1:g.14207C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002615.7:c.426C>T MANE Select NP_002606.3:p.Ile142=
ENST00000254722.9:c.426C>T MANE Select ENSP00000254722.4:p.Ile142=
NM_001329903.1:c.426C>T NP_001316832.1:p.Ile142=
NM_001329903.2:c.426C>T NP_001316832.1:p.Ile142=
NM_001329904.1:c.-136C>T NP_001316833.1:n.-136C>T
NM_001329904.2:c.-136C>T NP_001316833.1:n.-136C>T
NM_002615.5:c.426C>T NP_002606.3:p.Ile142=
NM_002615.6:c.426C>T NP_002606.3:p.Ile142=
ENST00000254722.8:c.426C>T ENSP00000254722.4:p.Ile142=
ENST00000570820.1:n.646C>T
ENST00000571870.5:n.667C>T
ENST00000573770.5:c.*276C>T ENSP00000459107.1:n.*276C>T
ENST00000576406.5:c.-136C>T ENSP00000461214.1:n.-136C>T