Canonical Allele Identifier: CA93607416

Gene: SEPSECS

Linked Data

• dbSNP Id: rs972711870
• gnomAD v4: 4-25120675-T-C
• MyVariant Identifiers: chr4:g.25122297T>C (hg19) ; chr4:g.25120675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25120675T>C , CM000666.2:g.25120675T>C	GRCh38
NC_000004.11:g.25122297T>C , CM000666.1:g.25122297T>C	GRCh37
NC_000004.10:g.24731395T>C	NCBI36
NG_028222.1:g.44908A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*3256A>G MANE Select	ENSP00000371535.2:n.*3256A>G
ENST00000680581.1:c.*3636A>G	ENSP00000506483.1:n.*3636A>G
ENST00000680824.1:n.5978A>G
ENST00000681071.1:n.5054A>G
ENST00000681341.1:n.5809A>G
ENST00000681374.1:n.4118A>G
ENST00000681948.1:c.*3256A>G	ENSP00000505991.1:n.*3256A>G
ENST00000382103.6:c.*3256A>G	ENSP00000371535.2:n.*3256A>G
NM_016955.3:c.*3256A>G	NP_058651.3:n.*3256A>G
XM_005248168.2:c.*3256A>G	XP_005248225.1:n.*3256A>G
XM_006713965.2:c.*3256A>G	XP_006714028.1:n.*3256A>G
XM_011513846.1:c.*3256A>G	XP_011512148.1:n.*3256A>G
XM_011513847.1:c.*3256A>G	XP_011512149.1:n.*3256A>G
XM_011513848.1:c.*3256A>G	XP_011512150.1:n.*3256A>G
XM_011513846.2:c.*3256A>G	XP_011512148.1:n.*3256A>G
XM_011513847.2:c.*3256A>G	XP_011512149.1:n.*3256A>G
XM_017008277.1:c.*3256A>G	XP_016863766.1:n.*3256A>G
XM_017008278.1:c.*3256A>G	XP_016863767.1:n.*3256A>G
NM_016955.4:c.*3256A>G MANE Select	NP_058651.3:n.*3256A>G