Canonical Allele Identifier: CA356542623

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25156895-T-C
• MyVariant Identifiers: chr4:g.25158517T>C (hg19) ; chr4:g.25156895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156895T>C , CM000666.2:g.25156895T>C	GRCh38
NC_000004.11:g.25158517T>C , CM000666.1:g.25158517T>C	GRCh37
NC_000004.10:g.24767615T>C	NCBI36
NG_028222.1:g.8688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.349A>G MANE Select	ENSP00000371535.2:p.Ile117Val
ENST00000680581.1:c.349A>G	ENSP00000506483.1:p.Ile117Val
ENST00000680824.1:n.1565A>G
ENST00000681071.1:n.641A>G
ENST00000681166.1:n.1396A>G
ENST00000681341.1:n.1490A>G
ENST00000681640.1:n.443A>G
ENST00000681948.1:c.604A>G	ENSP00000505991.1:p.Ile202Val
ENST00000358971.7:c.*147A>G	ENSP00000351857.3:n.*147A>G
ENST00000382103.6:c.349A>G	ENSP00000371535.2:p.Ile117Val
ENST00000514585.5:c.*50A>G	ENSP00000421880.1:n.*50A>G
NM_016955.3:c.349A>G	NP_058651.3:p.Ile117Val
XM_005248168.2:c.112A>G	XP_005248225.1:p.Ile38Val
XM_006713965.2:c.169A>G	XP_006714028.1:p.Ile57Val
XM_011513846.1:c.346A>G	XP_011512148.1:p.Ile116Val
XM_011513847.1:c.316A>G	XP_011512149.1:p.Ile106Val
XM_011513848.1:c.169A>G	XP_011512150.1:p.Ile57Val
XM_011513846.2:c.346A>G	XP_011512148.1:p.Ile116Val
XM_011513847.2:c.316A>G	XP_011512149.1:p.Ile106Val
XM_017008277.1:c.604A>G	XP_016863766.1:p.Ile202Val
XM_017008278.1:c.-75A>G	XP_016863767.1:n.-75A>G
NM_016955.4:c.349A>G MANE Select	NP_058651.3:p.Ile117Val