Canonical Allele Identifier: CA2877467

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2990810
• ClinVar RCV Id: RCV003847489
• dbSNP Id: rs747203247
• ExAC: 4:25158470 G / A
• gnomAD v2: 4-25158470-G-A
• gnomAD v4: 4-25156848-G-A
• MyVariant Identifiers: chr4:g.25158470G>A (hg19) ; chr4:g.25156848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156848G>A , CM000666.2:g.25156848G>A	GRCh38
NC_000004.11:g.25158470G>A , CM000666.1:g.25158470G>A	GRCh37
NC_000004.10:g.24767568G>A	NCBI36
NG_028222.1:g.8735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+8C>T MANE Select	ENSP00000371535.2:n.388+8C>T
ENST00000680581.1:c.388+8C>T	ENSP00000506483.1:n.388+8C>T
ENST00000680824.1:n.1604+8C>T
ENST00000681071.1:n.680+8C>T
ENST00000681166.1:n.1435+8C>T
ENST00000681341.1:n.1529+8C>T
ENST00000681640.1:n.482+8C>T
ENST00000681948.1:c.643+8C>T	ENSP00000505991.1:n.643+8C>T
ENST00000358971.7:c.*186+8C>T	ENSP00000351857.3:n.*186+8C>T
ENST00000382103.6:c.388+8C>T	ENSP00000371535.2:n.388+8C>T
ENST00000514585.5:c.*89+8C>T	ENSP00000421880.1:n.*89+8C>T
NM_016955.3:c.388+8C>T	NP_058651.3:n.388+8C>T
XM_005248168.2:c.151+8C>T	XP_005248225.1:n.151+8C>T
XM_006713965.2:c.208+8C>T	XP_006714028.1:n.208+8C>T
XM_011513846.1:c.385+8C>T	XP_011512148.1:n.385+8C>T
XM_011513847.1:c.355+8C>T	XP_011512149.1:n.355+8C>T
XM_011513848.1:c.208+8C>T	XP_011512150.1:n.208+8C>T
XM_011513846.2:c.385+8C>T	XP_011512148.1:n.385+8C>T
XM_011513847.2:c.355+8C>T	XP_011512149.1:n.355+8C>T
XM_017008277.1:c.643+8C>T	XP_016863766.1:n.643+8C>T
XM_017008278.1:c.-36+8C>T	XP_016863767.1:n.-36+8C>T
NM_016955.4:c.388+8C>T MANE Select	NP_058651.3:n.388+8C>T