Canonical Allele Identifier: CA8274752

Gene: SERPINF1

Linked Data

• dbSNP Id: rs750574562
• ExAC: 17:1675344 C / T
• gnomAD v2: 17-1675344-C-T
• gnomAD v4: 17-1772050-C-T
• MyVariant Identifiers: chr17:g.1675344C>T (hg19) ; chr17:g.1772050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1772050C>T , CM000679.2:g.1772050C>T	GRCh38
NC_000017.10:g.1675344C>T , CM000679.1:g.1675344C>T	GRCh37
NC_000017.9:g.1622094C>T	NCBI36
NG_028180.1:g.15086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254722.9:c.618C>T MANE Select	ENSP00000254722.4:p.Leu206=
ENST00000254722.8:c.618C>T	ENSP00000254722.4:p.Leu206=
ENST00000572048.1:c.57C>T	ENSP00000458484.1:p.Leu19=
ENST00000573763.1:c.17C>T	ENSP00000461405.1:p.Ser6Phe
ENST00000576406.5:c.57C>T	ENSP00000461214.1:p.Leu19=
NM_002615.5:c.618C>T	NP_002606.3:p.Leu206=
NM_001329903.1:c.618C>T	NP_001316832.1:p.Leu206=
NM_001329904.1:c.57C>T	NP_001316833.1:p.Leu19=
NM_001329905.1:c.57C>T	NP_001316834.1:p.Leu19=
NM_002615.6:c.618C>T	NP_002606.3:p.Leu206=
NM_002615.7:c.618C>T MANE Select	NP_002606.3:p.Leu206=
NM_001329903.2:c.618C>T	NP_001316832.1:p.Leu206=
NM_001329904.2:c.57C>T	NP_001316833.1:p.Leu19=
NM_001329905.2:c.57C>T	NP_001316834.1:p.Leu19=