Canonical Allele Identifier: CA397588595
Community Standard Title: NM_002615.7(SERPINF1):c.650G>A (p.Trp217Ter)
Gene: SERPINF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1775064G>A , CM000679.2:g.1775064G>A GRCh38
NC_000017.10:g.1678358G>A , CM000679.1:g.1678358G>A GRCh37
NC_000017.9:g.1625108G>A NCBI36
NG_028180.1:g.18100G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002615.7:c.650G>A MANE Select NP_002606.3:p.Trp217Ter
ENST00000254722.9:c.650G>A MANE Select ENSP00000254722.4:p.Trp217Ter
NM_001329903.1:c.650G>A NP_001316832.1:p.Trp217Ter
NM_001329903.2:c.650G>A NP_001316832.1:p.Trp217Ter
NM_001329904.1:c.89G>A NP_001316833.1:p.Trp30Ter
NM_001329904.2:c.89G>A NP_001316833.1:p.Trp30Ter
NM_001329905.1:c.89G>A NP_001316834.1:p.Trp30Ter
NM_001329905.2:c.89G>A NP_001316834.1:p.Trp30Ter
NM_002615.5:c.650G>A NP_002606.3:p.Trp217Ter
NM_002615.6:c.650G>A NP_002606.3:p.Trp217Ter
ENST00000254722.8:c.650G>A ENSP00000254722.4:p.Trp217Ter
ENST00000572048.1:c.89G>A ENSP00000458484.1:p.Trp30Ter
ENST00000573763.1:c.44G>A ENSP00000461405.1:p.Trp15Ter
ENST00000576406.5:c.89G>A ENSP00000461214.1:p.Trp30Ter