Canonical Allele Identifier: CA438732307

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2760543
• ClinVar RCV Id: RCV003572199
• MyVariant Identifiers: chr4:g.25146444T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144822T>C , CM000666.2:g.25144822T>C	GRCh38
NC_000004.11:g.25146444T>C , CM000666.1:g.25146444T>C	GRCh37
NC_000004.10:g.24755542T>C	NCBI36
NG_028222.1:g.20761A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.978A>G MANE Select	ENSP00000371535.2:p.Leu326=
ENST00000680581.1:c.978A>G	ENSP00000506483.1:p.Leu326=
ENST00000680824.1:n.2194A>G
ENST00000681071.1:n.1270A>G
ENST00000681341.1:n.2119A>G
ENST00000681948.1:c.1233A>G	ENSP00000505991.1:p.Leu411=
ENST00000358971.7:c.*776A>G	ENSP00000351857.3:n.*776A>G
ENST00000382103.6:c.978A>G	ENSP00000371535.2:p.Leu326=
ENST00000503150.1:c.260A>G
ENST00000505513.1:n.278A>G
ENST00000514585.5:c.*679A>G	ENSP00000421880.1:n.*679A>G
NM_016955.3:c.978A>G	NP_058651.3:p.Leu326=
XM_005248168.2:c.741A>G	XP_005248225.1:p.Leu247=
XM_006713965.2:c.798A>G	XP_006714028.1:p.Leu266=
XM_011513846.1:c.975A>G	XP_011512148.1:p.Leu325=
XM_011513847.1:c.945A>G	XP_011512149.1:p.Leu315=
XM_011513848.1:c.798A>G	XP_011512150.1:p.Leu266=
XM_011513846.2:c.975A>G	XP_011512148.1:p.Leu325=
XM_011513847.2:c.945A>G	XP_011512149.1:p.Leu315=
XM_017008277.1:c.1233A>G	XP_016863766.1:p.Leu411=
XM_017008278.1:c.555A>G	XP_016863767.1:p.Leu185=
NM_016955.4:c.978A>G MANE Select	NP_058651.3:p.Leu326=