Canonical Allele Identifier: CA394823969

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141620862
• MyVariant Identifiers: chr16:g.14041917C>T (hg19) ; chr16:g.13948060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948060C>T , CM000678.2:g.13948060C>T	GRCh38
NC_000016.9:g.14041917C>T , CM000678.1:g.14041917C>T	GRCh37
NC_000016.8:g.13949418C>T	NCBI36
NG_011442.1:g.32904C>T , LRG_463:g.32904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2602C>T	ENSP00000507912.1:p.Gln868Ter
ENST00000683962.1:c.*2158C>T	ENSP00000506854.1:n.*2158C>T
ENST00000311895.8:c.2464C>T MANE Select	ENSP00000310520.7:p.Gln822Ter
ENST00000311895.7:c.2464C>T	ENSP00000310520.7:p.Gln822Ter
ENST00000389138.7:n.1741C>T
NM_005236.2:c.2464C>T , LRG_463t1:c.2464C>T	NP_005227.1:p.Gln822Ter
XM_011522424.1:c.2602C>T	XP_011520726.1:p.Gln868Ter
XM_011522425.1:c.1921C>T	XP_011520727.1:p.Gln641Ter
XM_011522426.1:c.1675C>T	XP_011520728.1:p.Gln559Ter
XM_011522427.1:c.1114C>T	XP_011520729.1:p.Gln372Ter
XR_932805.1:n.2623C>T
XM_011522424.3:c.2602C>T	XP_011520726.1:p.Gln868Ter
XM_017023043.2:c.1675C>T	XP_016878532.1:p.Gln559Ter
NM_005236.3:c.2464C>T MANE Select	NP_005227.1:p.Gln822Ter