Canonical Allele Identifier: CA438732702

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1113056
• ClinVar RCV Id: RCV001440256
• dbSNP Id: rs1712690513
• gnomAD v4: 4-25156869-A-G
• MyVariant Identifiers: chr4:g.25158491A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156869A>G , CM000666.2:g.25156869A>G	GRCh38
NC_000004.11:g.25158491A>G , CM000666.1:g.25158491A>G	GRCh37
NC_000004.10:g.24767589A>G	NCBI36
NG_028222.1:g.8714T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.375T>C MANE Select	ENSP00000371535.2:p.Ile125=
ENST00000680581.1:c.375T>C	ENSP00000506483.1:p.Ile125=
ENST00000680824.1:n.1591T>C
ENST00000681071.1:n.667T>C
ENST00000681166.1:n.1422T>C
ENST00000681341.1:n.1516T>C
ENST00000681640.1:n.469T>C
ENST00000681948.1:c.630T>C	ENSP00000505991.1:p.Ile210=
ENST00000358971.7:c.*173T>C	ENSP00000351857.3:n.*173T>C
ENST00000382103.6:c.375T>C	ENSP00000371535.2:p.Ile125=
ENST00000514585.5:c.*76T>C	ENSP00000421880.1:n.*76T>C
NM_016955.3:c.375T>C	NP_058651.3:p.Ile125=
XM_005248168.2:c.138T>C	XP_005248225.1:p.Ile46=
XM_006713965.2:c.195T>C	XP_006714028.1:p.Ile65=
XM_011513846.1:c.372T>C	XP_011512148.1:p.Ile124=
XM_011513847.1:c.342T>C	XP_011512149.1:p.Ile114=
XM_011513848.1:c.195T>C	XP_011512150.1:p.Ile65=
XM_011513846.2:c.372T>C	XP_011512148.1:p.Ile124=
XM_011513847.2:c.342T>C	XP_011512149.1:p.Ile114=
XM_017008277.1:c.630T>C	XP_016863766.1:p.Ile210=
XM_017008278.1:c.-49T>C	XP_016863767.1:n.-49T>C
NM_016955.4:c.375T>C MANE Select	NP_058651.3:p.Ile125=