Canonical Allele Identifier: CA2877283

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2957048
• ClinVar RCV Id: RCV003818735
• dbSNP Id: rs374504942
• ExAC: 4:25146384 G / A
• gnomAD v2: 4-25146384-G-A
• gnomAD v4: 4-25144762-G-A
• MyVariant Identifiers: chr4:g.25146384G>A (hg19) ; chr4:g.25144762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144762G>A , CM000666.2:g.25144762G>A	GRCh38
NC_000004.11:g.25146384G>A , CM000666.1:g.25146384G>A	GRCh37
NC_000004.10:g.24755482G>A	NCBI36
NG_028222.1:g.20821C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.1026+12C>T MANE Select	ENSP00000371535.2:n.1026+12C>T
ENST00000680581.1:c.1026+12C>T	ENSP00000506483.1:n.1026+12C>T
ENST00000680824.1:n.2242+12C>T
ENST00000681071.1:n.1318+12C>T
ENST00000681341.1:n.2167+12C>T
ENST00000681948.1:c.1281+12C>T	ENSP00000505991.1:n.1281+12C>T
ENST00000358971.7:c.*824+12C>T	ENSP00000351857.3:n.*824+12C>T
ENST00000382103.6:c.1026+12C>T	ENSP00000371535.2:n.1026+12C>T
ENST00000503150.1:c.308+12C>T
ENST00000505513.1:n.326+12C>T
ENST00000514585.5:c.*727+12C>T	ENSP00000421880.1:n.*727+12C>T
NM_016955.3:c.1026+12C>T	NP_058651.3:n.1026+12C>T
XM_005248168.2:c.789+12C>T	XP_005248225.1:n.789+12C>T
XM_006713965.2:c.846+12C>T	XP_006714028.1:n.846+12C>T
XM_011513846.1:c.1023+12C>T	XP_011512148.1:n.1023+12C>T
XM_011513847.1:c.993+12C>T	XP_011512149.1:n.993+12C>T
XM_011513848.1:c.846+12C>T	XP_011512150.1:n.846+12C>T
XM_011513846.2:c.1023+12C>T	XP_011512148.1:n.1023+12C>T
XM_011513847.2:c.993+12C>T	XP_011512149.1:n.993+12C>T
XM_017008277.1:c.1281+12C>T	XP_016863766.1:n.1281+12C>T
XM_017008278.1:c.603+12C>T	XP_016863767.1:n.603+12C>T
NM_016955.4:c.1026+12C>T MANE Select	NP_058651.3:n.1026+12C>T