Canonical Allele Identifier: CA10617654

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 348517
• ClinVar RCV Id: RCV000275799
• dbSNP Id: rs886059340
• gnomAD v2: 4-25122419-G-T
• gnomAD v3: 4-25120797-G-T
• gnomAD v4: 4-25120797-G-T
• MyVariant Identifiers: chr4:g.25122419G>T (hg19) ; chr4:g.25120797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25120797G>T , CM000666.2:g.25120797G>T	GRCh38
NC_000004.11:g.25122419G>T , CM000666.1:g.25122419G>T	GRCh37
NC_000004.10:g.24731517G>T	NCBI36
NG_028222.1:g.44786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*3134C>A MANE Select	ENSP00000371535.2:n.*3134C>A
ENST00000680581.1:c.*3514C>A	ENSP00000506483.1:n.*3514C>A
ENST00000680824.1:n.5856C>A
ENST00000681071.1:n.4932C>A
ENST00000681341.1:n.5687C>A
ENST00000681374.1:n.3996C>A
ENST00000681948.1:c.*3134C>A	ENSP00000505991.1:n.*3134C>A
ENST00000382103.6:c.*3134C>A	ENSP00000371535.2:n.*3134C>A
NM_016955.3:c.*3134C>A	NP_058651.3:n.*3134C>A
XM_005248168.2:c.*3134C>A	XP_005248225.1:n.*3134C>A
XM_006713965.2:c.*3134C>A	XP_006714028.1:n.*3134C>A
XM_011513846.1:c.*3134C>A	XP_011512148.1:n.*3134C>A
XM_011513847.1:c.*3134C>A	XP_011512149.1:n.*3134C>A
XM_011513848.1:c.*3134C>A	XP_011512150.1:n.*3134C>A
XM_011513846.2:c.*3134C>A	XP_011512148.1:n.*3134C>A
XM_011513847.2:c.*3134C>A	XP_011512149.1:n.*3134C>A
XM_017008277.1:c.*3134C>A	XP_016863766.1:n.*3134C>A
XM_017008278.1:c.*3134C>A	XP_016863767.1:n.*3134C>A
NM_016955.4:c.*3134C>A MANE Select	NP_058651.3:n.*3134C>A