Canonical Allele Identifier: CA397586469
Community Standard Title: NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter)
Gene: SERPINF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1771991C>T , CM000679.2:g.1771991C>T GRCh38
NC_000017.10:g.1675285C>T , CM000679.1:g.1675285C>T GRCh37
NC_000017.9:g.1622035C>T NCBI36
NG_028180.1:g.15027C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002615.7:c.559C>T MANE Select NP_002606.3:p.Gln187Ter
ENST00000254722.9:c.559C>T MANE Select ENSP00000254722.4:p.Gln187Ter
NM_001329903.1:c.559C>T NP_001316832.1:p.Gln187Ter
NM_001329903.2:c.559C>T NP_001316832.1:p.Gln187Ter
NM_001329904.1:c.-3C>T NP_001316833.1:n.-3C>T
NM_001329904.2:c.-3C>T NP_001316833.1:n.-3C>T
NM_001329905.1:c.-3C>T NP_001316834.1:n.-3C>T
NM_001329905.2:c.-3C>T NP_001316834.1:n.-3C>T
NM_002615.5:c.559C>T NP_002606.3:p.Gln187Ter
NM_002615.6:c.559C>T NP_002606.3:p.Gln187Ter
ENST00000254722.8:c.559C>T ENSP00000254722.4:p.Gln187Ter
ENST00000570820.1:n.779C>T
ENST00000572048.1:c.-3C>T ENSP00000458484.1:n.-3C>T
ENST00000573763.1:c.-43C>T ENSP00000461405.1:n.-43C>T
ENST00000576406.5:c.-3C>T ENSP00000461214.1:n.-3C>T