Canonical Allele Identifier: CA93577766

Gene: SEPSECS

Linked Data

• dbSNP Id: rs150522642
• gnomAD v2: 4-25148924-G-C
• gnomAD v3: 4-25147302-G-C
• gnomAD v4: 4-25147302-G-C
• MyVariant Identifiers: chr4:g.25148924G>C (hg19) ; chr4:g.25147302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25147302G>C , CM000666.2:g.25147302G>C	GRCh38
NC_000004.11:g.25148924G>C , CM000666.1:g.25148924G>C	GRCh37
NC_000004.10:g.24758022G>C	NCBI36
NG_028222.1:g.18281C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.805-2169C>G MANE Select	ENSP00000371535.2:n.805-2169C>G
ENST00000680581.1:c.805-2169C>G	ENSP00000506483.1:n.805-2169C>G
ENST00000680824.1:n.2021-2169C>G
ENST00000681071.1:n.1097-2169C>G
ENST00000681341.1:n.1946-2169C>G
ENST00000681948.1:c.1060-2169C>G	ENSP00000505991.1:n.1060-2169C>G
ENST00000358971.7:c.*603-2169C>G	ENSP00000351857.3:n.*603-2169C>G
ENST00000382103.6:c.805-2169C>G	ENSP00000371535.2:n.805-2169C>G
ENST00000503150.1:c.217-2437C>G
ENST00000505513.1:n.235-2437C>G
ENST00000514585.5:c.*506-2169C>G	ENSP00000421880.1:n.*506-2169C>G
NM_016955.3:c.805-2169C>G	NP_058651.3:n.805-2169C>G
XM_005248168.2:c.568-2169C>G	XP_005248225.1:n.568-2169C>G
XM_006713965.2:c.625-2169C>G	XP_006714028.1:n.625-2169C>G
XM_011513846.1:c.802-2169C>G	XP_011512148.1:n.802-2169C>G
XM_011513847.1:c.772-2169C>G	XP_011512149.1:n.772-2169C>G
XM_011513848.1:c.625-2169C>G	XP_011512150.1:n.625-2169C>G
XM_011513846.2:c.802-2169C>G	XP_011512148.1:n.802-2169C>G
XM_011513847.2:c.772-2169C>G	XP_011512149.1:n.772-2169C>G
XM_017008277.1:c.1060-2169C>G	XP_016863766.1:n.1060-2169C>G
XM_017008278.1:c.382-2169C>G	XP_016863767.1:n.382-2169C>G
NM_016955.4:c.805-2169C>G MANE Select	NP_058651.3:n.805-2169C>G