Canonical Allele Identifier: CA93585492

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1641159
• ClinVar RCV Id: RCV002140050
• dbSNP Id: rs182275126
• gnomAD v2: 4-25158503-C-T
• gnomAD v3: 4-25156881-C-T
• gnomAD v4: 4-25156881-C-T
• MyVariant Identifiers: chr4:g.25158503C>T (hg19) ; chr4:g.25156881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156881C>T , CM000666.2:g.25156881C>T	GRCh38
NC_000004.11:g.25158503C>T , CM000666.1:g.25158503C>T	GRCh37
NC_000004.10:g.24767601C>T	NCBI36
NG_028222.1:g.8702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.363G>A MANE Select	ENSP00000371535.2:p.Leu121=
ENST00000680581.1:c.363G>A	ENSP00000506483.1:p.Leu121=
ENST00000680824.1:n.1579G>A
ENST00000681071.1:n.655G>A
ENST00000681166.1:n.1410G>A
ENST00000681341.1:n.1504G>A
ENST00000681640.1:n.457G>A
ENST00000681948.1:c.618G>A	ENSP00000505991.1:p.Leu206=
ENST00000358971.7:c.*161G>A	ENSP00000351857.3:n.*161G>A
ENST00000382103.6:c.363G>A	ENSP00000371535.2:p.Leu121=
ENST00000514585.5:c.*64G>A	ENSP00000421880.1:n.*64G>A
NM_016955.3:c.363G>A	NP_058651.3:p.Leu121=
XM_005248168.2:c.126G>A	XP_005248225.1:p.Leu42=
XM_006713965.2:c.183G>A	XP_006714028.1:p.Leu61=
XM_011513846.1:c.360G>A	XP_011512148.1:p.Leu120=
XM_011513847.1:c.330G>A	XP_011512149.1:p.Leu110=
XM_011513848.1:c.183G>A	XP_011512150.1:p.Leu61=
XM_011513846.2:c.360G>A	XP_011512148.1:p.Leu120=
XM_011513847.2:c.330G>A	XP_011512149.1:p.Leu110=
XM_017008277.1:c.618G>A	XP_016863766.1:p.Leu206=
XM_017008278.1:c.-61G>A	XP_016863767.1:n.-61G>A
NM_016955.4:c.363G>A MANE Select	NP_058651.3:p.Leu121=