Canonical Allele Identifier: CA397591465
Community Standard Title: NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe)
Gene: SERPINF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1777405C>T , CM000679.2:g.1777405C>T GRCh38
NC_000017.10:g.1680699C>T , CM000679.1:g.1680699C>T GRCh37
NC_000017.9:g.1627449C>T NCBI36
NG_028180.1:g.20441C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002615.7:c.1216C>T MANE Select NP_002606.3:p.Leu406Phe
ENST00000254722.9:c.1216C>T MANE Select ENSP00000254722.4:p.Leu406Phe
NM_001329903.1:c.1216C>T NP_001316832.1:p.Leu406Phe
NM_001329903.2:c.1216C>T NP_001316832.1:p.Leu406Phe
NM_001329904.1:c.655C>T NP_001316833.1:p.Leu219Phe
NM_001329904.2:c.655C>T NP_001316833.1:p.Leu219Phe
NM_001329905.1:c.655C>T NP_001316834.1:p.Leu219Phe
NM_001329905.2:c.655C>T NP_001316834.1:p.Leu219Phe
NM_002615.5:c.1216C>T NP_002606.3:p.Leu406Phe
NM_002615.6:c.1216C>T NP_002606.3:p.Leu406Phe
ENST00000254722.8:c.1216C>T ENSP00000254722.4:p.Leu406Phe
ENST00000572517.1:n.512C>T