Canonical Allele Identifier: CA397590988

Gene: SERPINF1

Linked Data

• dbSNP Id: rs193302873
• gnomAD v2: 17-1680615-C-G
• gnomAD v3: 17-1777321-C-G
• gnomAD v4: 17-1777321-C-G
• MyVariant Identifiers: chr17:g.1680615C>G (hg19) ; chr17:g.1777321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1777321C>G , CM000679.2:g.1777321C>G	GRCh38
NC_000017.10:g.1680615C>G , CM000679.1:g.1680615C>G	GRCh37
NC_000017.9:g.1627365C>G	NCBI36
NG_028180.1:g.20357C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254722.9:c.1132C>G MANE Select	ENSP00000254722.4:p.Gln378Glu
ENST00000254722.8:c.1132C>G	ENSP00000254722.4:p.Gln378Glu
ENST00000572517.1:n.428C>G
NM_002615.5:c.1132C>G	NP_002606.3:p.Gln378Glu
NM_001329903.1:c.1132C>G	NP_001316832.1:p.Gln378Glu
NM_001329904.1:c.571C>G	NP_001316833.1:p.Gln191Glu
NM_001329905.1:c.571C>G	NP_001316834.1:p.Gln191Glu
NM_002615.6:c.1132C>G	NP_002606.3:p.Gln378Glu
NM_002615.7:c.1132C>G MANE Select	NP_002606.3:p.Gln378Glu
NM_001329903.2:c.1132C>G	NP_001316832.1:p.Gln378Glu
NM_001329904.2:c.571C>G	NP_001316833.1:p.Gln191Glu
NM_001329905.2:c.571C>G	NP_001316834.1:p.Gln191Glu