Canonical Allele Identifier: CA2877307

Gene: SEPSECS

Linked Data

• dbSNP Id: rs542089308
• ExAC: 4:25146526 G / C
• gnomAD v2: 4-25146526-G-C
• gnomAD v4: 4-25144904-G-C
• MyVariant Identifiers: chr4:g.25146526G>C (hg19) ; chr4:g.25144904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144904G>C , CM000666.2:g.25144904G>C	GRCh38
NC_000004.11:g.25146526G>C , CM000666.1:g.25146526G>C	GRCh37
NC_000004.10:g.24755624G>C	NCBI36
NG_028222.1:g.20679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.935-39C>G MANE Select	ENSP00000371535.2:n.935-39C>G
ENST00000680581.1:c.935-39C>G	ENSP00000506483.1:n.935-39C>G
ENST00000680824.1:n.2151-39C>G
ENST00000681071.1:n.1227-39C>G
ENST00000681341.1:n.2076-39C>G
ENST00000681948.1:c.1190-39C>G	ENSP00000505991.1:n.1190-39C>G
ENST00000358971.7:c.*733-39C>G	ENSP00000351857.3:n.*733-39C>G
ENST00000382103.6:c.935-39C>G	ENSP00000371535.2:n.935-39C>G
ENST00000503150.1:c.217-39C>G
ENST00000505513.1:n.235-39C>G
ENST00000514585.5:c.*636-39C>G	ENSP00000421880.1:n.*636-39C>G
NM_016955.3:c.935-39C>G	NP_058651.3:n.935-39C>G
XM_005248168.2:c.698-39C>G	XP_005248225.1:n.698-39C>G
XM_006713965.2:c.755-39C>G	XP_006714028.1:n.755-39C>G
XM_011513846.1:c.932-39C>G	XP_011512148.1:n.932-39C>G
XM_011513847.1:c.902-39C>G	XP_011512149.1:n.902-39C>G
XM_011513848.1:c.755-39C>G	XP_011512150.1:n.755-39C>G
XM_011513846.2:c.932-39C>G	XP_011512148.1:n.932-39C>G
XM_011513847.2:c.902-39C>G	XP_011512149.1:n.902-39C>G
XM_017008277.1:c.1190-39C>G	XP_016863766.1:n.1190-39C>G
XM_017008278.1:c.512-39C>G	XP_016863767.1:n.512-39C>G
NM_016955.4:c.935-39C>G MANE Select	NP_058651.3:n.935-39C>G