Canonical Allele Identifier: CA11774538

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1236636
• ClinVar RCV Id: RCV001639151
• dbSNP Id: rs62411564
• gnomAD v2: 4-25157955-A-C
• gnomAD v3: 4-25156333-A-C
• gnomAD v4: 4-25156333-A-C
• MyVariant Identifiers: chr4:g.25157955A>C (hg19) ; chr4:g.25156333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156333A>C , CM000666.2:g.25156333A>C	GRCh38
NC_000004.11:g.25157955A>C , CM000666.1:g.25157955A>C	GRCh37
NC_000004.10:g.24767053A>C	NCBI36
NG_028222.1:g.9250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.389-138T>G MANE Select	ENSP00000371535.2:n.389-138T>G
ENST00000680581.1:c.389-138T>G	ENSP00000506483.1:n.389-138T>G
ENST00000680824.1:n.1605-138T>G
ENST00000681071.1:n.681-138T>G
ENST00000681166.1:n.1436-138T>G
ENST00000681341.1:n.1530-138T>G
ENST00000681640.1:n.483-138T>G
ENST00000681948.1:c.644-138T>G	ENSP00000505991.1:n.644-138T>G
ENST00000358971.7:c.*187-138T>G	ENSP00000351857.3:n.*187-138T>G
ENST00000382103.6:c.389-138T>G	ENSP00000371535.2:n.389-138T>G
ENST00000514585.5:c.*90-138T>G	ENSP00000421880.1:n.*90-138T>G
NM_016955.3:c.389-138T>G	NP_058651.3:n.389-138T>G
XM_005248168.2:c.152-138T>G	XP_005248225.1:n.152-138T>G
XM_006713965.2:c.209-138T>G	XP_006714028.1:n.209-138T>G
XM_011513846.1:c.386-138T>G	XP_011512148.1:n.386-138T>G
XM_011513847.1:c.356-138T>G	XP_011512149.1:n.356-138T>G
XM_011513848.1:c.209-138T>G	XP_011512150.1:n.209-138T>G
XM_011513846.2:c.386-138T>G	XP_011512148.1:n.386-138T>G
XM_011513847.2:c.356-138T>G	XP_011512149.1:n.356-138T>G
XM_017008277.1:c.644-138T>G	XP_016863766.1:n.644-138T>G
XM_017008278.1:c.-35-138T>G	XP_016863767.1:n.-35-138T>G
NM_016955.4:c.389-138T>G MANE Select	NP_058651.3:n.389-138T>G