Canonical Allele Identifier: CA2877328

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 522806
• ClinVar RCV Id: RCV000625975 ; RCV001462752 ; RCV001553762
• dbSNP Id: rs146539065
• ExAC: 4:25146714 C / T
• gnomAD v2: 4-25146714-C-T
• gnomAD v3: 4-25145092-C-T
• gnomAD v4: 4-25145092-C-T
• MyVariant Identifiers: chr4:g.25146714C>T (hg19) ; chr4:g.25145092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25145092C>T , CM000666.2:g.25145092C>T	GRCh38
NC_000004.11:g.25146714C>T , CM000666.1:g.25146714C>T	GRCh37
NC_000004.10:g.24755812C>T	NCBI36
NG_028222.1:g.20491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.846G>A MANE Select	ENSP00000371535.2:p.Leu282=
ENST00000680581.1:c.846G>A	ENSP00000506483.1:p.Leu282=
ENST00000680824.1:n.2062G>A
ENST00000681071.1:n.1138G>A
ENST00000681341.1:n.1987G>A
ENST00000681948.1:c.1101G>A	ENSP00000505991.1:p.Leu367=
ENST00000358971.7:c.*644G>A	ENSP00000351857.3:n.*644G>A
ENST00000382103.6:c.846G>A	ENSP00000371535.2:p.Leu282=
ENST00000503150.1:c.217-227G>A
ENST00000505513.1:n.235-227G>A
ENST00000514585.5:c.*547G>A	ENSP00000421880.1:n.*547G>A
NM_016955.3:c.846G>A	NP_058651.3:p.Leu282=
XM_005248168.2:c.609G>A	XP_005248225.1:p.Leu203=
XM_006713965.2:c.666G>A	XP_006714028.1:p.Leu222=
XM_011513846.1:c.843G>A	XP_011512148.1:p.Leu281=
XM_011513847.1:c.813G>A	XP_011512149.1:p.Leu271=
XM_011513848.1:c.666G>A	XP_011512150.1:p.Leu222=
XM_011513846.2:c.843G>A	XP_011512148.1:p.Leu281=
XM_011513847.2:c.813G>A	XP_011512149.1:p.Leu271=
XM_017008277.1:c.1101G>A	XP_016863766.1:p.Leu367=
XM_017008278.1:c.423G>A	XP_016863767.1:p.Leu141=
NM_016955.4:c.846G>A MANE Select	NP_058651.3:p.Leu282=