Canonical Allele Identifier: CA10620861

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 348512
• ClinVar RCV Id: RCV000309990
• dbSNP Id: rs111294195
• gnomAD v2: 4-25121705-G-A
• gnomAD v3: 4-25120083-G-A
• gnomAD v4: 4-25120083-G-A
• MyVariant Identifiers: chr4:g.25121705G>A (hg19) ; chr4:g.25120083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25120083G>A , CM000666.2:g.25120083G>A	GRCh38
NC_000004.11:g.25121705G>A , CM000666.1:g.25121705G>A	GRCh37
NC_000004.10:g.24730803G>A	NCBI36
NG_028222.1:g.45500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*3848C>T MANE Select	ENSP00000371535.2:n.*3848C>T
ENST00000680581.1:c.*4228C>T	ENSP00000506483.1:n.*4228C>T
ENST00000680824.1:n.6570C>T
ENST00000681071.1:n.5646C>T
ENST00000681341.1:n.6401C>T
ENST00000681374.1:n.4710C>T
ENST00000681948.1:c.*3848C>T	ENSP00000505991.1:n.*3848C>T
ENST00000382103.6:c.*3848C>T	ENSP00000371535.2:n.*3848C>T
NM_016955.3:c.*3848C>T	NP_058651.3:n.*3848C>T
XM_005248168.2:c.*3848C>T	XP_005248225.1:n.*3848C>T
XM_006713965.2:c.*3848C>T	XP_006714028.1:n.*3848C>T
XM_011513846.1:c.*3848C>T	XP_011512148.1:n.*3848C>T
XM_011513847.1:c.*3848C>T	XP_011512149.1:n.*3848C>T
XM_011513848.1:c.*3848C>T	XP_011512150.1:n.*3848C>T
XM_011513846.2:c.*3848C>T	XP_011512148.1:n.*3848C>T
XM_011513847.2:c.*3848C>T	XP_011512149.1:n.*3848C>T
XM_017008277.1:c.*3848C>T	XP_016863766.1:n.*3848C>T
XM_017008278.1:c.*3848C>T	XP_016863767.1:n.*3848C>T
NM_016955.4:c.*3848C>T MANE Select	NP_058651.3:n.*3848C>T